tbuckley/cabot-search huggingface dataset:
Huh-7: A human “hemochromatotic” cell line
Authors: Chiara Vecchi, Giuliana Montosi, Antonello Pietrangelo
Journal: Hepatology (2009)

Hereditary hemochromatosis (HC) is commonly associated with homozygosity for the cysteine-to-tyrosine substitution at position 282 (C282Y) of the HFE protein. This mutation prevents HFE from binding beta(2)-microglobulin (beta(2)M) and reaching the cell surface. We have discovered that a widely used hepatoma cell line, Huh-7, carries a HFE mutation similar to that associated with human HC. By HFE gene sequencing of Huh-7 genomic DNA, we found a TAC nucleotide deletion (c. 691_693del) responsible for loss of a tyrosine at position 231 (p. Y231del) of the HFE protein. This mutation affects a conserved hydrophobic region in a loop connecting two beta strands that make up the alpha3 domain of HFE, not far from the 282 site. HFE was detected by western blot in HepG2 but not in Huh-7 cell membrane fractions. In WRL-68 cells expressing wild-type HFE, the HFE protein was largely found at the plasma membrane where it colocalizes with beta(2)M. On the contrary, the HFE-Y231del mutant, similarly to an exogenously expressed HFE-C282Y mutant, failed to reach the plasma membrane and did not colocalize with membrane-expressed beta(2)M. C282Y mutant HFE in HC is associated with inadequate hepcidin expression. We found that Huh-7 cells display lower hepcidin messenger RNA levels as compared to HepG2 cells, which carry a wild-type HFE. Interestingly, hepcidin messenger RNA levels increased significantly in Huh-7 cells stably expressing exogenous wild-type HFE at the plasma membrane.Huh-7 cells may represent a novel and valuable tool to investigate the role of altered HFE traffic in iron metabolism and pathogenesis of human HFE HC.
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2
Authors: Maurizio De Fusco, Roberto Marconi, Laura Silvestri, Luigia Atorino, Luca Rampoldi, Letterio Morgante, Andrea Ballabio, Paolo Aridon, Giorgio Casari
Journal: Nature Genetics (2003)
A NEW BED DEVICE FOR FACILITATING THE DRAINAGE OF EMPYEMA THORACIS
Authors: Irving R. Roth
Journal: JAMA (1918)

It is with the realization of the gravity of an improperly drained empyema and with the hope of facilitating such drainage, that I present this device. It consists essentially of two parts: (1) an elevated canvas bed, spanned across the bed frame, with an opening in the canvas to permit the passage of a tube from the pleural cavity through it into the pus bottle below (Fig. 1), and (2) a series of air-tight bottles and tubes below the canvas bed (Fig. 2). Bottle A (Fig. 3) is an 8-ounce, air-tight, pus bottle communicating with the tube in the pleural cavity. From Bottle A, air is exhausted by means of Bottle B, which is a 2-gallon irrigating bottle in which a vacuum is created by letting water flow out of its spout at the bottom by gravity into Bottle C, which is a 2-gallon plain bottle. When Bottle B is
A Randomized Study Comparing High&amp;ndash;Energy TUMT to TURP: Quality&amp;ndash;of&amp;ndash;Life Results
Authors: E.A.E. Francisca, F.C.H. d&rsquo;Ancona, J.C.M. Hendriks, L.A.L.M. Kiemeney, F.M.J. Debruyne, J.J.M.C.H de la Rosette
Journal: European Urology (2000)
Cutting Military Medical Research Abroad
Authors: William J. Bicknell, Susan R. Windham
Journal: New England Journal of Medicine (1980)

IN a time of national economic hardship, virtually every federal program is subject to critical review. However, the Administration's recent decision to dismantle the Defense Department's network of medical research units abroad appears to have been made casually rather than critically. This directive, issued by the Office of Management and Budget (OMB), promises little or no dollar savings. Nevertheless, it will extinguish a unique research capability in tropical medicine and infectious disease that is of demonstrated benefit to many developing countries, and it will jeopardize international goodwill and United States military effectiveness.Profile of United States Military Medical Research Abroad . . .
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
Authors: Alessandra Bolino, Maria Muglia, Francesca Luisa Conforti, Eric LeGuern, Mustafa A.M. Salih, Domna-Maria Georgiou, Kyproula Christodoulou, Irena Hausmanowa-Petrusewicz, Paola Mandich, Angelo Schenone, Antonio Gambardella, Franco Bono, Aldo Quattrone, Marcella Devoto, Anthony P. Monaco
Journal: Nature Genetics (2000)
Absence of circulating natural killer (NK) cells in a child with erythrophagocytic lymphohistiocytosis lacking NK cell activity
Authors: Hiroshi Kawai, Atsushi Komiyama, Kohki Aoyama, Yukiaki Miyagawa, Taro Akabane
Journal: American Journal of Hematology (1988)

Abstract A 5‐year‐old girl who was diagnosed as having erythrophagocytic lymphohistiocytosis died at age 9 years. Peripheral lymphocytes from the patient persistently lacked natural killer (NK) cell activity during the 4‐year observation period: the percent lysis values as measured by a 4‐hr 51 Cr release assay at a 40:1 effector:target ratio were below 1.0% against K562 and Molt‐4 cells as compared with the normal lymphocyte value (mean ± SD) of 46.2% ± 5.8% and 43.9% ± 6.7%, respectively. The patient's lymphocytes never developed NK cell activity by their incubation with target cells for longer time periods or by their stimulation with interferon‐α, interleukin‐2, or polyinosinic‐polycytidilic acid. Single cell‐in‐agarose assay showed the absence of target‐binding cells (TBCs): TBC numbers were below 0.3% as compared with the normal lymphocyte value of 8.1% ± 1.3% (mean ± SD). Flow cytometry showed a marked decrease in Leu‐7 + cells (1.7%) and the absence of Leu‐11 + cells (0.4%) in the peripheral blood. These results first demonstrate a case of erythrophagocytic lymphohistiocytosis in which there is the lack of NK cell activity due to the absence of circulating NK cells.
Long term risk of invasive cancer after treatment for cervical intraepithelial neoplasia grade 3: population based cohort study
Authors: Björn Strander, Agneta Andersson-Ellström, Ian Milsom, Pär Sparén
Journal: BMJ (2007)

To study the long term risk of invasive cancer of the cervix or vagina after treatment for cervical intraepithelial neoplasia grade 3.Prospective cohort study.Swedish cancer registry.All women in Sweden with severe dysplasia or cervical carcinoma in situ (equivalent to cervical intraepithelial neoplasia grade 3) treated during 1958-2002 (n=132,493) contributing 2,315,724 woman years.Standardised incidence ratios with risk of cancer in the Swedish general female population as reference, and relative risks in multivariable log-linear regression model, with internal references.Women with previous cervical intraepithelial neoplasia grade 3 had an increased risk of invasive cervical cancer compared with the general female population (standardised incidence ratio 2.34, 95% confidence interval 2.18 to 2.50). The increased risk showed a decreasing trend with time since diagnosis for women treated later than 1970 but the risk was still increased after 25 years. An effect of age was found, with an accentuated increase in risk for women aged more than 50. The excess risk for cervical cancer associated with previous cervical intraepithelial neoplasia grade 3 has steadily increased since 1958. For vaginal cancer the standardised incidence ratio was 6.82 (5.61 to 8.21) but this decreased to 2.65 after 25 years. Adjustments in the multivariable log-linear regression model did not substantially alter these results.Women previously treated for cervical intraepithelial neoplasia grade 3 are at an increased risk of developing invasive cervical cancer and vaginal cancer. This risk has increased since the 1960s and is accentuated in women aged more than 50. The risk is still increased 25 years after treatment.
Absorption of lactose and its digestion products i the normal and malnourished Ugandan.
Authors: G C Cook, A Lakin, R G Whitehead
Journal: Gut (1967)

EDITORIAL COMMENT There is a correlation between the rise in capillary blood glucose and the percentage absorption of lactose following an oral load in normal Ugandan subjects and without lactase deficiency.Lactase deficiency occurs in some children with kwashiorkor.
NK cytotoxicity mediated by CD16 but not by NKp30 is functional in Griscelli syndrome
Authors: Roi Gazit, Memet Aker, Moran Elboim, Hagit Achdout, Gil Katz, Dana G. Wolf, Shulamit Katzav, Ofer Mandelboim
Journal: Blood (2007)

Abstract Griscelli syndrome (GS) type 2 is an autosomal recessive disorder represented by pigment dilution and impaired cytotoxic T lymphocyte (CTL) activity. NK activity has been scarcely investigated in GS patients. Here, we describe a new patient, possessing a hemophagocytic syndrome with a homozygous Q118X nonsense RAB27A mutation. Single specific primer–polymerase chain reaction (SSP-PCR) was developed based on this mutation and is currently used in prenatal genetic analysis. As expected, CTLs in the patient are not functional and NK cytotoxicity against K562 or 721.221 cells is diminished. Surprisingly, however, we demonstrate that CD16-mediated killing is intact in this patient and is therefore RAB27A independent, whereas NKp30-mediated killing is impaired and is therefore RAB27A dependent. We further analyzed the signaling pathways of these 2 receptors and demonstrated phosphorylation of Vav1 after CD16 activation but not after NKp30 engagement. Thus, we identify a novel homozygous mutation in the RAB27A gene of a new GS patient, observe for the first time that some activating NK receptors function in GS patients, and demonstrate a functional dichotomy in the killing mediated by these human NK-activating receptors.
Muscular Ventricular Septal Defect Visualized as Nonreversible Perfusion Abnormality on Myocardial Perfusion SPECT and Confirmed on Cardiac Computed Tomography Angiography Images
Authors: Aiden Abidov, James Stewart, Gilbert Raff
Journal: Clinical Nuclear Medicine (2009)

A 47-year-old woman with no history of CAD presented with an episode of left-sided atypical chest pain. Her work-up was negative for acute MI. She underwent a myocardial perfusion Tc-99m tetrofosmin SPECT study to rule out myocardial ischemia. The SPECT images revealed a small nonreversible mid-anteroseptal perfusion defect. For additional evaluation coronary computed tomography angiography was performed. This revealed normal coronary arteries and demonstrated a small muscular ventricular septal defect which corresponded to the location of the fixed perfusion defect on the SPECT images. The presence of the ventricular septal defect should be considered in differential diagnosis of an isolated fixed septal perfusion abnormality on SPECT images in patients with no history of prior MI.1–8
Electrophoretic Analysis of Serum Proteins in Infants and Children
Authors: J. William Oberman, Krikor O. Gregory, Frederic G. Burke, Sydney Ross, E. Clarence Rice
Journal: New England Journal of Medicine (1958)

THE recent development of electrophoretic technics for large-scale separation of the major components of the serum proteins and the realization that clinically recognizable disease may be produced by the relative or almost complete absence of one of the serum protein components (gamma globulin) have stimulated new interest in the alterations of the serum proteins in natural and pathologic states.Although changes in the albumin and alpha-globulin fractions of the serum proteins have been described as occurring in the acute phase of many diseases, previous authors1 , 2 have emphasized the fact that the serum level of gamma globulin is increased in the . . .
Medical Aspects of Road Safety
Authors: A. M. G. Campbell
Journal: BMJ (1952)

<h3>Abstract</h3> <h3>Objective</h3> This paper describes the epidemiology of home- and work-related injuries, their mechanisms, inequalities and costs associated with these injuries. <h3>Methods</h3> A household survey was undertaken in three palikas (administrative areas) of Makwanpur district between April-June, 2019. Data were collected electronically on non-fatal injuries that occurred in the previous three months and fatal injuries that occurred in the previous five years. <h3>Findings</h3> 17,593 individuals were surveyed from 3,327 households. The injury rate was 8.0/1000 population for home injuries and 6.4/1000 for work-related injuries; 61.0% of home injuries were among females and 69.9% of work-related injuries among males. Forty-eight percent of all home injuries were due to falls (28 males (50.9%) and 40 females (46.5%)); burn/scalds were higher among females 15 (10.5%). Cuts and piercings accounted for 40% of all work-related injuries and 36.3% were falls. Injury incidence varied by ethnic group: home injuries were highest in Brahmin (12/1000) and work-related injuries highest in Rai groups (21.0 per 1000). The total mean cost of work-related injury was US$143.3 (SD 276.7), higher than for home injuries (US$130.4, SD 347.6). The number of home (n = 74, 64.9%) and work-related (n = 67, 77.9%) injuries were higher in families below the poverty line (&lt;US$1.9) than families in the next income bracket (US$1.9–3.2)(home: n = 22, 19.3%; work: n = 11, 12.8%). <h3>Conclusions</h3> Home and occupational fall injuries are common. The inequalities in injury identified in our study by rurality, age, sex, income level and ethnic group can help target injury prevention interventions for vulnerable groups. <h3>What is already known on the subject</h3> Limited epidemiological data are available in Nepal about the location of injury, activity taking place when injury occurred and the costs of injury There is limited information about the distribution of injuries by ethnicity and income groups. <h3>What this study adds</h3> People from rural areas experience more injuries than people living in urban or city areas Manual workers sustain more work-related injuries than those in other occupations Certain ethnic groups have higher rates of injuries than other ethnic groups People with lower income experience more injuries than people with higher incomes Injury costs are high in relation to average per capita income.
TCTAP A-117 Combined Transcatheter Aortic Valve Implantation (TAVI) and Stenting of the Coronary Arteries in Patients with Severe Aortic Stenosis
Authors: David G. Iosseliani, Djamil Asadov, Igor Arabadzhyan, Vladislav Kriukov, Elena Kovaleva, Anna Rogatova
Journal: Journal of the American College of Cardiology (2014)
Natriuretic response to saline infusion in normotensive and hypertensive man. The role of renin suppression in exaggerated natriuresis.
Authors: F C Luft, C E Grim, L R Willis, J T Higgins, M H Weinberger
Journal: Circulation (1977)

Previous studies have reported an exaggerated natriuresis in hypertensive man; however, a systematic appraisal of this response in various forms of hypertension has not been made. We measured fractional excretion of sodium (FENa) during a four hour intravenous infusion of 2 liters normal saline in 162 normal subjects and 120 hypertensives. Of these, 13 had primary aldosteronism (ALDO), 19 high renin (HRH), 30 low renin (LRH), and 57 normal renin (NRH) essential hypertension. FENa for normals (1.42%), NRH (1.57%), and HRH (1.46%) was similar. That for LRH (2.56%) and ALDO (4.18%) was elevated compared to the other three subgroups (P less than 0.001). Although the four hour FENa during saline infusion was associated with mean atrterial blood pressure (MABP) within the entire hypertensive population (r = 0.51), when the subgroups of the hypertensive patients were considered separately no association between FENa and MABP was identified. Moreover, the MABP of subjects with HRH was greater (P less than 0.05) than in those with NRH, although the FENa of the two subgroups was similar. Patients with ALDO and LRH have a greater natriuretic response to a salt load than do other subgroups of essential hypertension or normal subjects. The exaggerated natriuresis appears to be a feature of hypertension with renin suppression. The degree of exaggerated natriuresis in not solely a function of an elevated mean arterial blood pressure.
International epidemiological and microbiological study of outbreak of Salmonella agona infection from a ready to eat savoury snack--I: England and Wales and the United States
Authors: D Killalea, L R Ward, D Roberts, J de Louvois, F Sufi, J M Stuart, P G Wall, M Susman, M Schwieger, P J Sanderson, I S T Fisher, P S Mead, O N Gill, C L R Bartlett, B Rowe
Journal: BMJ (1996)

<h3>Abstract</h3> <b>Objectives</b>: To identify the source of an international outbreak of food poisoning due to Salmonella agona phage type 15 and to measure how long the underlying cause persisted. <b>Design</b>: Case-control study of 16 primary household cases and 32 controls of similar age and dietary habit. Packets of the implicated foodstuff manufactured on a range of days were examined for salmonella. All isolates of the epidemic phage type were further characterised by pulsed field gel electrophoresis. <b>Results</b>: 27 cases were identified, of which 26 were in children. The case-control study showed a strong association between infection with S agona phage type 15 and consumption of a peanut flavoured ready to eat kosher savoury snack imported from Israel. S agona phage type 15 was isolated from samples of this snack. The combined food sampling results from the United Kingdom, Canada, the United States, and Israel showed that contaminated snacks were manufactured on at least seven separate dates during a four month period between October 1994 and February 1995. Voluntary recalls of the product successfully interrupted transmission. <b>Conclusions</b>: Rapid international exchanges of information led to the identification of the source of a major outbreak of S agona in Israel and of associated cases in North America. The outbreak showed the value of the Salm-Net surveillance system and its links outside Europe, both for increasing case ascertainment and for improving the information on the duration of the fault at the manufacturing plant. <h3>Key messages</h3> International surveillance networks can strength- en infection control When a foodstuff is contaminated it is important to examine as many batches as possible to show the duration of the production fault
Thrombolytic Therapy for Deep Venous Thrombosis?
Authors: McDonald K. Horne III
Journal: JAMA (1999)

We present the case of a man bedridden by deep venous thrombosis who was given intraclot instillations of recombinant tissue plasminogen activator with remarkable improvement. Although such aggressive treatment may be justified in severe cases, the role for thrombolytic agents for less symptomatic deep venous thrombosis is undefined. We discuss the question of when thrombolytic therapy should be considered. However, proper clinical trials are needed before firm recommendations can be made.
Abstract 2227: An automatic pipeline to find and annotate rare subclonal somatic variants in a paired tumor/normal sample
Authors: Anika Joecker, Nathan Pearson, Cecilie Boysen, Naomi Thomson, Anne-Mette Hein, Bodil Oster, Anne Arens, Bjarne Knudsen, Thomas Knudsen, Dan Richards, Roald Forsberg
Journal: Cancer Research (2014)

Abstract Identifying and characterizing somatic variants in deep genome sequence data from tumor samples remains challenging and time-consuming. Of special interest in cancer research and diagnostics is the detection and annotation of rare subclonal somatic variants found only in a small proportion of primary tumor cells. Such variants can drive tumor spread and recurrence, but are often neglected in choosing treatments. Currently, few tools reliably distinguish such rare subclonal variants from sequencing errors. And even among real somatic variants, drivers (of tumor growth, spread, or resistance) are hard to distinguish from passengers. Doing so entails integrating diverse information on variants, genes, pathways, cancer-relevant phenotypes, and treatments (including insights on population allele frequencies and broader evolutionary conservation; known/likely effects on gene product structure, function, expression, and interaction; and relations among gene products, phenotypes, and drugs). Software for effectively integrating such data in light of genomic variation in samples, to highlight relevant findings through clear visualization, has been a pressing need. Here we present an end-to-end analysis workflow for finding and functionally characterizing rare subclonal variants, using the newly developed CLC Cancer Research Workbench to feed the interpretive platform of Ingenuity Variant Analysis, to identify cancer driver mutations in paired tumor/normal samples. We will show new interesting results from this analysis, which were not shown beforehand on this publicly available cancer dataset (Case Reports in Oncological Medicine, Volume 2013 (2013), Article ID 270362) from a patient with massive acinic cell carcinoma. Citation Format: Anika Joecker, Nathan Pearson, Cecilie Boysen, Naomi Thomson, Anne-Mette Hein, Bodil Oster, Anne Arens, Bjarne Knudsen, Thomas Knudsen, Dan Richards, Roald Forsberg. An automatic pipeline to find and annotate rare subclonal somatic variants in a paired tumor/normal sample. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 2227. doi:10.1158/1538-7445.AM2014-2227
Do all ischemic ventricular tachycardia patients need an implantable cardioverter defibrillator?
Authors: Alida E. Borger van der Burg, Jeroen J. Bax, Lieselot van Erven, Marianne Bootsma, Ernst E. van der Wall, Martin J. Schalij
Journal: Journal of the American College of Cardiology (2003)