tbuckley/cabot-search huggingface dataset:
Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma
Authors: Matthew N. Bainbridge, Georgina N. Armstrong, M. Monica Gramatges, Alison A. Bertuch, Shalini N. Jhangiani, Harsha Doddapaneni, Lora Lewis, Joseph Tombrello, Spyros Tsavachidis, Yanhong Liu, Ali Jalali, Sharon E. Plon, Ching C. Lau, Donald W. Parsons, Elizabeth B. Claus, Jill Barnholtz-Sloan, Dora Il’yasova, Joellen Schildkraut, Francis Ali-Osman, Siegal Sadetzki, Christoffer Johansen, Richard S. Houlston, Robert B. Jenkins, Daniel Lachance, Sara H. Olson, Jonine L. Bernstein, Ryan T. Merrell, Margaret R. Wrensch, Kyle M. Walsh, Faith G. Davis, Rose Lai, Sanjay Shete, Kenneth Aldape, Christopher I. Amos, Patricia A. Thompson, Donna M. Muzny, Richard A. Gibbs, Beatrice S. Melin, Melissa L. Bondy
Journal: JNCI Journal of the National Cancer Institute (2014)

Gliomas are the most common brain tumor, with several histological subtypes of various malignancy grade. The genetic contribution to familial glioma is not well understood. Using whole exome sequencing of 90 individuals from 55 families, we identified two families with mutations in POT1 (p.G95C, p.E450X), a member of the telomere shelterin complex, shared by both affected individuals in each family and predicted to impact DNA binding and TPP1 binding, respectively. Validation in a separate cohort of 264 individuals from 246 families identified an additional mutation in POT1 (p.D617Efs), also predicted to disrupt TPP1 binding. All families with POT1 mutations had affected members with oligodendroglioma, a specific subtype of glioma more sensitive to irradiation. These findings are important for understanding the origin of glioma and could have importance for the future diagnostics and treatment of glioma.
Arterial Aneurysm as a Cause of Consumption Coagulopathy
Authors: Robert Bieger, Johan Vreeken, Jeanne Stibbe, Emil A. Loeliger
Journal: New England Journal of Medicine (1971)

FINE et al.1 were the first to report dissecting aneurysm and a hemorrhagic diathesis evident as petechiae, gingival bleeding and prolonged bleeding from venipuncture sites. The results of a coagulation study were consistent with a diagnosis of consumption coagulopathy. Only one2 of the many survey articles2 3 4 5 subsequently published lists an aneurysm as a cause of consumption coagulopathy. As far as we know, three more patients have been described with an aneurysm and consumption coagulopathy6 7 8; however, the clinical data and the results of the coagulation studies were given for only one case.8 Case ReportsCase 1. J.K., an 84-year-old man, . . .
"Free" medical publishing venture gets under way
Authors: L. Eaton
Journal: BMJ (2003)

The Public Library of Science, which has been campaigning to produce free access scientific research via the web, rather than conventional print publication, has obtained a $9m grant over five years from the Gordon and Betty Moore Foundation, enabling it to publish two peer reviewed online journals-on biology and medicine.

The online journals will be funded through payments made by authors of the papers, rather than the current subscription based financing of medical publications. Authors will be asked to pay about $1500 (£936; €1460) per article, …
The Incidence of Facial Injuries From Dog Bites
Authors: Trudy A. Karlson
Journal: JAMA (1984)

The incidence of hospital-treated facial injuries caused by dog bites was determined from a population-based study involving Dane County, Wisconsin, hospitals during 1978 and 1979. Annual rates were shown to be 152 per 100,000 for ages 0 to 4 years, 128 per 100,000 for ages 5 to 9 years, and 62 per 100,000 for ages 10 to 14 years. Severe facial injuries from dog bites were found almost exclusively in children younger than 10 years. If these rates apply to children in the US population, then an estimated 44,000 facial injuries, 16,000 of them severe, caused by dog bites are seen in hospitals each year. The cumulative incidence of facial injuries from dog bites for children to age 14 years is 1.6%. Most of the published advice for preventing dog bite injuries to the face suggests parental diligence in keeping children away from dogs, but options such as choosing dogs less likely to bite children may be more effective. (<i>JAMA</i>1984;251:3265-3267)
Squamous Cell Carcinomas in Fanconi's Anemia
Authors: Michael Swift
Journal: JAMA (1971)

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 Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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) 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
Xenobiotic, Bile Acid, and Cholesterol Transporters: Function and Regulation
Authors: Curtis D. Klaassen, Lauren M. Aleksunes
Journal: Pharmacological Reviews (2010)

Transporters influence the disposition of chemicals within the body by participating in absorption, distribution, and elimination. Transporters of the solute carrier family (SLC) comprise a variety of proteins, including organic cation transporters (OCT) 1 to 3, organic cation/carnitine transporters (OCTN) 1 to 3, organic anion transporters (OAT) 1 to 7, various organic anion transporting polypeptide isoforms, sodium taurocholate cotransporting polypeptide, apical sodium-dependent bile acid transporter, peptide transporters (PEPT) 1 and 2, concentrative nucleoside transporters (CNT) 1 to 3, equilibrative nucleoside transporter (ENT) 1 to 3, and multidrug and toxin extrusion transporters (MATE) 1 and 2, which mediate the uptake (except MATEs) of organic anions and cations as well as peptides and nucleosides. Efflux transporters of the ATP-binding cassette superfamily, such as ATP-binding cassette transporter A1 (ABCA1), multidrug resistance proteins (MDR) 1 and 2, bile salt export pump, multidrug resistance-associated proteins (MRP) 1 to 9, breast cancer resistance protein, and ATP-binding cassette subfamily G members 5 and 8, are responsible for the unidirectional export of endogenous and exogenous substances. Other efflux transporters [ATPase copper-transporting beta polypeptide (ATP7B) and ATPase class I type 8B member 1 (ATP8B1) as well as organic solute transporters (OST) alpha and beta] also play major roles in the transport of some endogenous chemicals across biological membranes. This review article provides a comprehensive overview of these transporters (both rodent and human) with regard to tissue distribution, subcellular localization, and substrate preferences. Because uptake and efflux transporters are expressed in multiple cell types, the roles of transporters in a variety of tissues, including the liver, kidneys, intestine, brain, heart, placenta, mammary glands, immune cells, and testes are discussed. Attention is also placed upon a variety of regulatory factors that influence transporter expression and function, including transcriptional activation and post-translational modifications as well as subcellular trafficking. Sex differences, ontogeny, and pharmacological and toxicological regulation of transporters are also addressed. Transporters are important transmembrane proteins that mediate the cellular entry and exit of a wide range of substrates throughout the body and thereby play important roles in human physiology, pharmacology, pathology, and toxicology.
THE MEANING AND IMPORT OF CASTS IN THE URINE WITHOUT ALBUMIN, AND THE INADEQUACY OF THE ORDINARY CHEMIC TESTS.
Authors: LUDWIG BREMER
Journal: JAMA (1895)

The microscopic examination of the urine, though resorted to more frequently now by the general practitioner than ten or twenty years ago, is still too little practiced and is underestimated as to its value by the vast majority of physicians. In suspected cases of renal diseases or complications, the chemic test, frequently a very crude one, is relied upon exclusively, and in case of absence of albumin the verdict is rendered: there is nothing the matter with the kidneys. How erroneous such a course is on the part of the physician, what dangers it involves to the patient, what damage it may cause to the reputation of the medical attendant, and how important it is to the medical man to emancipate himself from a time-hallowed and pernicious delusion, viz., the all-importance of the chemic urinary tests, I shall try to demonstrate and emphasize in the following remarks. The diagnosis, albuminuria,
Inhibition of Histone Deacetylase 2 Expression by Elevated Glucocorticoid Receptor β in Steroid-resistant Asthma
Authors: Ling-bo Li, Donald Y. M. Leung, Richard J. Martin, Elena Goleva
Journal: American Journal of Respiratory and Critical Care Medicine (2010)

Cross-talk between glucocorticoid receptors and histone deacetylases (HDACs) under steroid-insensitive conditions has not been explored.
Doctors explore research potential of blood samples from newborns
Authors: B. Roehr
Journal: BMJ (2009)

Heightened concerns about privacy and a growing potential for research have led to a re-examination in the United States of policies on blood samples taken from newborn babies to screen for treatable genetic diseases.

At a recent forum on the subject, doctors said that more public education and awareness was needed. The American College of Medical Genetics and the Genetic Alliance sponsored the event just outside Washington, DC, on 23 September.

“Newborn screening is unique,” said Alan Fleischman, medical director for the charity the March of Dimes, “because the specimens represent a sample of every baby born in the United States.” That amounted to 4.2 million babies a year. “It is potentially a very valuable resource to …
Pancreatic Extract Lipase Activity
Authors: Emanuel Lebenthal
Journal: JAMA (1993)

<h3>To the Editor.</h3> —The use of pancreatic enzyme extracts has decreased maldigestion of fat, as well as macronutrients and micronutrients due to pancreatic insufficiency and alleviated various abdominal symptoms, including steatorrhea, pain associated with alcohol-induced chronic pancreatitis, and distal intestinal obstruction.<sup>1,2</sup>Despite the recognized importance of pancreatic enzyme extracts, current preparations cannot be easily interchanged in clinical practice.<sup>3</sup>A change in capsule with a similar level of lipase can cause an increase in steatorrhea.<sup>4,5</sup>We decided to examine the level of several zymogen enzymes in the pancreatic extracts from two leading companies and to compare the findings (1) with the composition claimed by the manufacturers, (2) with whether there are differences in proteases (ie, trypsin, chymotrypsin, and carboxypeptidases A and B), and (3) to check the stability of the enzymes in 3-hour incubation time and release in pH 6.5 in phosphate buffer. Most patients with cystic fibrosis
Effect of malnutrition during the first year of life on adult plasma insulin and glucose tolerance
Authors: J González-Barranco, J.M Rı́os-Torres, L Castillo-Martı́nez, J.C López-Alvarenga, C.A Aguilar-Salinas, C Bouchard, J.P Deprès, A Tremblay
Journal: Metabolism (2003)
Keratinocytes constitutively express the CD95 ligand molecule on the plasma membrane: an in situ immunoelectron microscopy study on ultracryosections of normal human skin
Authors: G. De Panfilis, D. Semenza, A. Lavazza, A.A. Mulder, A.M. Mommaas, G. Pasolini
Journal: British Journal of Dermatology (2002)

Tissue homeostasis is mainly preserved by cytolytic functions. Cytolytic cells, when expressing the CD95 ligand (Fas-L) molecule on the cell membrane, are able to kill CD95 (Fas)-expressing target cells. Although cultured epidermal keratinocytes (KC) have been shown to express Fas-L, and normal skin has been shown to bear Fas-L mRNA, efforts so far to find possible constitutive Fas-L expression on the cell membrane by resting KC in normal human epidermis (i.e. in a functionally active location) have been inconclusive.The aim of the present study was therefore to show the constitutive expression of Fas-L on the plasma membrane of KC.Gold immunoelectronmicroscopy, a highly specific and sensitive immunodetection system, was performed in situ on skin sections obtained by ultracryomicrotomy, without previous embedding (i.e. in conditions strictly similar to the in vivo situation).Relatively few (51.55 +/- 28.61), 10-nm colloidal gold particles were observed at the cell surface of KC in the basal layer of the epidermis and an even smaller (P < 0.005) number of gold granules was detected in the KC of the spinous layer.Although scanty, the constitutive Fas-L expressed on the surface of KC can bind Fas expressed by possible occasional inflammatory cells entering the epidermis, and kill them, so preventing inflammation. Fas-L-expressing KC could moreover induce apoptosis of epidermal cells bearing viral or neoplastic antigens. Thus, the expression of Fas-L by KC may contribute to the preservation of epidermal homeostasis in vivo.
A cDNA microarray gene expression database for cancer drug discovery
Authors: J.N. Weinstein, U. Scherf, D. Ross, M. Waltham, R. Reinhold, Y. Zhou, D.A. Scudiero, L.H. Smith, J.K. Lee, D. Shalon, D. Lashkari, M. Eisen, T.M. Myers, E.A. Sausville, D. Botstein, P.O. Brown
Journal: Nature Genetics (1999)
On the Interaction between Phagocytes and Micro-Organisms
Authors: Philip R. Steinmetz, Christine Balko, Peter Elsbach
Journal: New England Journal of Medicine (1973)

WHEN phagocytic cells ingest and kill micro-organisms, a variety of biochemical responses ensue and exercise specific roles in the major phases of the phagocytic process.1 , 2 For example, the increased production of hydrogen peroxide, linked to an increase in nonmitochondrial oxygen consumption, is part of a potent microbicidal system.2 The absence of this system may be associated with reduced microbicidal activity by phagocytes in vitro and decreased resistance to infection in man. Undoubtedly, many other microbicidal agents and biochemical systems exist in phagocytes, only some of which have been identified.2 Despite an intense investigative effort, almost nothing is known about the . . .
EGFR Antibodies in Colorectal Cancer: Where Do They Belong?
Authors: Axel Grothey
Journal: Journal of Clinical Oncology (2010)

cancer.First, radiotherapy combined with neoadjuvant hormonal therapy resulted in a survival advantage over external radiation without neoadjuvant hormone treatment in a European trial as well as in a subsequent trial in the United States. 9,10Second, prostatectomy resulted in a survival advantage over watchful waiting (with the latter often accompanied by later radiotherapy or hormonal therapy) in the Swedish Scandinavian Prostatic Cancer Group (SPCG)-4 trial. 11Third, external-beam radiation combined with neoadjuvant hormonal therapy led to a survival advantage over hormonal therapy alone in a European trial. 12Therefore, the HRQOL detriments of external radiation monotherapy or brachytherapy monotherapy observed by Pardo et al may reduce enthusiasm for these two primary radiotherapy treatment options for which class I evidence of survival benefit, in the absence of concurrent androgen deprivation, remains elusive.
Clinical genetics meets primary care.
Authors: N Qureshi, J A Raeburn
Journal: BMJ (1993)

with local anaesthetics.For mild pain paracetamol seems safe even in very young infants.Data on its efficacy in young children are scarce, and dosing is based primarily on the dose that is effective for controlling fever.Several non-steroidal anti-inflammatory drugs have been shown to provide analgesia in children as young as 3. Ketorolac, ibuprofen, indo- methacin, and diclofenac all reduce opioid requirements after surgery.
INTERMITTENT EXOPHTHALMUS, WITH REPORT OF A CASE.
Authors: WM. CAMPBELL POSEY
Journal: JAMA (1905)

<h3>Patient.</h3> —C. McL., a drug clerk, 21 years of age, consulted me eighteen months ago at the Wills Eye Hospital, on account of a feeling of "looseness" in the left eye, and for the correction of a tendency which the eye had to drop forward when he inclined his head forward or made slight muscular exertion. <h3>History.</h3> —The patient said that his mother had noticed when he was but 4 years old that when he stooped to tie his shoe laces the left eye became swollen, but recovered its natural appearance as soon as he regained the upright posture. This tendency to protrusion of the eyeball persisted until he was 12 years of age, when he had a severe fall, striking his head, after which it was thought that the eye fell forward offener and to a greater degree than before the accident. Of late years he had remarked that
Physical and Cognitive Performance of Patients with Acute Lung Injury 1 Year after Initial Trophic versus Full Enteral Feeding. EDEN Trial Follow-up
Authors: Dale M. Needham, Victor D. Dinglas, Peter E. Morris, James C. Jackson, Catherine L. Hough, Pedro A. Mendez-Tellez, Amy W. Wozniak, Elizabeth Colantuoni, E. Wesley Ely, Todd W. Rice, Ramona O. Hopkins
Journal: American Journal of Respiratory and Critical Care Medicine (2013)

We hypothesized that providing patients with acute lung injury two different protein/calorie nutritional strategies in the intensive care unit may affect longer-term physical and cognitive performance.To assess physical and cognitive performance 6 and 12 months after acute lung injury, and to evaluate the effect of trophic versus full enteral feeding, provided for the first 6 days of mechanical ventilation, on 6-minute-walk distance, cognitive impairment, and secondary outcomes.A prospective, longitudinal ancillary study of the ARDS Network EDEN trial evaluating 174 consecutive survivors from 5 of 12 centers. Blinded assessments of patients' arm anthropometrics, strength, pulmonary function, 6-minute-walk distance, and cognitive status (executive function, language, memory, verbal reasoning/concept formation, and attention) were performed.At 6 and 12 months, respectively, the mean (SD) percent predicted for 6-minute-walk distance was 64% (22%) and 66% (25%) (P = 0.011 for difference between assessments), and 36 and 25% of survivors had cognitive impairment (P = 0.001). Patients performed below predicted values for secondary physical tests with small improvement from 6 to 12 months. There was no significant effect of initial trophic versus full feeding for the first 6 days after randomization on survivors' percent predicted for 6-minute-walk distance, cognitive impairment status, and all secondary outcomes.EDEN trial survivors performed below predicted values for physical and cognitive performance at 6 and 12 months, with some improvement over time. Initial trophic versus full enteral feeding for the first 6 days after randomization did not affect physical and cognitive performance.
Brain-Derived Neurotrophic Factor as a Marker for Immediate Assessment of the Success of Renal Sympathetic Denervation
Authors: Oliver Dörr, Christoph Liebetrau, Helge Möllmann, Luise Gaede, Christian Troidl, Vanessa Haidner, Jens Wiebe, Sandra Voss, Timm Bauer, Christian Hamm, Holger Nef
Journal: Journal of the American College of Cardiology (2015)
Heat shock induces resistance in rat pancreatic islet cells against nitric oxide, oxygen radicals and streptozotocin toxicity in vitro.
Authors: K Bellmann, A Wenz, J Radons, V Burkart, R Kleemann, H Kolb
Journal: Journal of Clinical Investigation (1995)

When cultures of pancreatic islet cells are exposed to the nitric oxide donor sodium nitroprusside, to enzymatically generated reactive oxygen intermediates or to streptozotocin cell lysis occurs after 4-12 h. We report here that a heat shock at 43 degrees C for 90 min reduces cell lysis from nitric oxide (0.45 mM sodium nitroprusside) by 70%, from reactive oxygen intermediates (12 mU xanthine oxidase and 0.05 mM hypoxanthine) by 80% and from streptozotocin (1.5 mM) by 90%. Heat shock induced resistance was observed immediately after termination of the 90 min culture at 43 degrees C and correlated with enhanced expression of hsp70. The occurrence of DNA strand breaks, a major early consequence of nitric oxide, reactive oxygen intermediates, or streptozotocin action, was not suppressed by heat shock treatment. However, the depletion of NAD+, the major cause of radical induced islet cell death, was suppressed after heat shock (P < 0.01). We conclude that pancreatic islet cells can rapidly activate defence mechanisms against nitric oxide, reactive oxygen intermediates and streptozotocin by culture at 43 degrees C. Islet cell survival is due to the prevention of lethal NAD+ depletion during DNA repair, probably by slowing down poly(ADP-ribose)polymerase activation.
Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in<i>CSTA</i>
Authors: V. Moosbrugger-Martinz, A. Jalili, A.S. Schossig, K. Jahn-Bassler, J. Zschocke, M. Schmuth, G. Stingl, K.M. Eckl, H.C. Hennies, R. Gruber
Journal: British Journal of Dermatology (2014)

Journal Article Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss‐of‐function mutation in CSTA Get access V. Moosbrugger‐Martinz, V. Moosbrugger‐Martinz Department of Dermatology and Venereology Medical University Innsbruck Innsbruck Austria Search for other works by this author on: Oxford Academic Google Scholar A. Jalili, A. Jalili Division of Immunology, Allergy and Infectious Diseases Department of Dermatology Medical University of Vienna Vienna Austria Search for other works by this author on: Oxford Academic Google Scholar A.S. Schossig, A.S. Schossig Division of Human Genetics Medical University Innsbruck Innsbruck Austria Search for other works by this author on: Oxford Academic Google Scholar K. Jahn‐Bassler, K. Jahn‐Bassler Division of Immunology, Allergy and Infectious Diseases Department of Dermatology Medical University of Vienna Vienna Austria Search for other works by this author on: Oxford Academic Google Scholar J. Zschocke, J. Zschocke Division of Human Genetics Medical University Innsbruck Innsbruck Austria Search for other works by this author on: Oxford Academic Google Scholar M. Schmuth, M. Schmuth Department of Dermatology and Venereology Medical University Innsbruck Innsbruck Austria Search for other works by this author on: Oxford Academic Google Scholar G. Stingl, G. Stingl Division of Immunology, Allergy and Infectious Diseases Department of Dermatology Medical University of Vienna Vienna Austria Search for other works by this author on: Oxford Academic Google Scholar K.M. Eckl, K.M. Eckl Center for Dermatogenetics Division of Human Genetics Medical University Innsbruck Innsbruck Austria Search for other works by this author on: Oxford Academic Google Scholar H.C. Hennies, H.C. Hennies Center for Dermatogenetics Division of Human Genetics Medical University Innsbruck Innsbruck Austria Search for other works by this author on: Oxford Academic Google Scholar R. Gruber R. Gruber Department of Dermatology and Venereology Medical University Innsbruck Innsbruck AustriaCenter for Dermatogenetics Division of Human Genetics Medical University Innsbruck Innsbruck Austria Correspondence Robert Gruber. E‐mail: r.gruber@i-med.ac.at Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 172, Issue 6, 1 June 2015, Pages 1628–1632, https://doi.org/10.1111/bjd.13545 Published: 01 June 2015