tbuckley/cabot-search huggingface dataset:
Abstract P2-06-04: The power of next generation sequencing in the detection of breast and ovarian cancer susceptibility genes other than <i>BRCA</i>
Authors: M Eliade, J Skrypski, A Baurand, C Jacquot, G Bertolone, C Loustalot, C Coutant, F Guy, P Fumoleau, J-B Rivière, Y Duffourd, F Ghiringhelli, F Végran, R Boidot, S Lizard, L Faivre
Journal: Cancer Research (2016)

Abstract Background : Most cases of breast and ovarian cancer susceptibility remains unexplained. Testing multiple genes in one go with next generation sequencing is then an asset with the recent discovery of new genes involved in breast and ovarian cancer susceptibility. Methods : We studied 457 patients originated from Burgundy (France) fulfilling the criteria for BRCA1/2 testing using a next generation sequencing 25-gene panel including 17 genes of predisposition for breast and/or ovarian cancer (ATM, BARD1, BRCA 1/2, BRIP1, CHEK2, PALB2, RAD51C, TP53, PTEN, RAD50, MRE11, MLH1, MSH2, MSH6, PMS2, STK11). Results : A pathogenic BRCA1/2 mutation was found in 8% (n=37) of patients. Besides, we found 39 deleterious or probably deleterious mutations in 13 different genes. The most frequently mutated genes were CHEK2 (n=10 ; 2.1 %), ATM (n=9 ; 2 %), and PALB2 (n=4 ; 0.9%). One patient had deleterious mutations in both TP53 and PALB2, and another one had deleterious mutations in both BRCA2 and CHEK2. The mutation could explain the phenotype in the majority of cases, but a pathogenic mutation was found in a different predisposing gene in 7 patients, and could be considered as incidental findings with the currently published spectrum of cancer locations. Conclusion : Besides BRCA1/2 mutations, that remain the most frequent susceptibility genes for breast and ovarian cancer, gene panels remain a powerful tool for identifying the other less frequent susceptibility genes. The penetrance and spectrum of cancer associated to these other genes remain sometimes undefined, and further collaborative work is crucially needed to address this question. The possibility of double hits should led to careful genetic counseling. Citation Format: Eliade M, Skrypski J, Baurand A, Jacquot C, Bertolone G, Loustalot C, Coutant C, Guy F, Fumoleau P, Rivière J-B, Duffourd Y, Ghiringhelli F, Végran F, Boidot R, Lizard S, Faivre L. The power of next generation sequencing in the detection of breast and ovarian cancer susceptibility genes other than BRCA. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P2-06-04.
Does the prevalence of radiographic hand osteoarthritis in patients with HIV-1 infection increase or not?
Authors: Wei Luo, Guang-hua Lei, Hong-bo He, Yu-sheng Li
Journal: Annals of the Rheumatic Diseases (2016)

Hand osteoarthritis (HOA) is a heterogeneous disease with the involvement of different joints and varying levels of symptoms. Recent studies showed that the prevalence of HOA varied with gender, age and different hand joints.1–3 Different prevalence and longitudinal course of radiographic, erosive and symptomatic HOA were also described in the general population.2 Nevertheless, the accurate influence factors of HOA prevalence are still far from well understood. We read with deep interest the article by Anne-Laurence Tomi et al 4 related to the prevalence and severity of radiographic HOA in patients with HIV-1 infection associated with metabolic syndrome. This cross-sectional Metabolic Syndrome and Fibrosis–Osteoarthritis (METAFIB-OA) study suggested that HOA frequency was greater in patients with HIV-1 infection than the general population, and it was more significant in those with metabolic syndrome (MetS). Thus, the authors thought that HIV-1 infection represents a special promotion for radiographic HOA and that there should be a ‘HIV-related OA’ subtype beyond classical OA phenotypes. We really appreciate the work that has been done by …
Recent Progress in Light-Triggered Nanotheranostics for Cancer Treatment
Authors: Pengcheng Zhang, Chunhua Hu, Wei Ran, Jia Meng, Qi Yin, Yaping Li
Journal: Theranostics (2016)

Treatments of high specificity are desirable for cancer therapy.Light-triggered nanotheranostics (LTN) mediated cancer therapy could be one such treatment, as they make it possible to visualize and treat the tumor specifically in a light-controlled manner with a single injection.Because of their great potential in cancer therapy, many novel and powerful LTNs have been developed, and are mainly prepared from photosensitizers (PSs) ranging from small organic dyes such as porphyrin-and cyanine-based dyes, semiconducting polymers, to inorganic nanomaterials such as gold nanoparticles, transition metal chalcogenides, carbon nanotubes and graphene.Using LTNs and localized irradiation in combination, complete tumor ablation could be achieved in tumor-bearing animal models without causing significant toxicity.Given their great advances and promising future, we herein review LTNs that have been tested in vivo with a highlight on progress that has been made in the past a couple of years.The current challenges faced by these LTNs are also briefly discussed.
Virus-Associated Skin Tumors of the Syrian Hamster: Preliminary Note
Authors: Graffi, A., Schramm, T., Graffi, I., Bierwolf, D., Bender, E.
Journal: JNCI Journal of the National Cancer Institute (1968)

Journal Article Virus-Associated Skin Tumors of the Syrian Hamster: Preliminary Note Get access A. Graffi, A. Graffi Institute for Cancer Research, Experimental Section, German Academy of Sciences, Berlin-Buch, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar T. Schramm, T. Schramm Institute for Cancer Research, Experimental Section, German Academy of Sciences, Berlin-Buch, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar I. Graffi, I. Graffi Institute for Cancer Research, Experimental Section, German Academy of Sciences, Berlin-Buch, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar D. Bierwolf, D. Bierwolf Institute for Cancer Research, Experimental Section, German Academy of Sciences, Berlin-Buch, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar E. Bender E. Bender Institute for Cancer Research, Experimental Section, German Academy of Sciences, Berlin-Buch, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 40, Issue 4, April 1968, Pages 867–873, https://doi.org/10.1093/jnci/40.4.867 Published: 01 April 1968 Article history Received: 27 October 1967 Accepted: 06 December 1967 Published: 01 April 1968
Symptom criteria and family history in major depression
Authors: D N Klein
Journal: American Journal of Psychiatry (1990)

The author examined the relationship between symptom criteria for major depression and family history of mood disorders in 82 outpatients with major depression and 27 outpatients with nonaffective disorders. The family members of depressed patients with six or more groups of DSM-III symptoms of major depression exhibited substantially higher rates of mood disorders than the family members of depressed patients with fewer than six groups of symptoms and the family members of patients with nonaffective disorders. These data suggest that stricter symptom criteria for major depression may define a more homogeneous phenotype, at least from the standpoint of familial aggregation.
Three years follow up in patients with stage III breast cancer: Single institution experience
Authors: I. Stojkovski, S. Kraleva, S. Smickoska, S. Crvenkova
Journal: Journal of Clinical Oncology (2006)

10752 Background: Purpose of this study is to estimate impact of different prognostic factors and treatment procedures on overall survival of patients with stage III breast cancer, treated at the Institute of Radiotherapy and Oncology (IRO) in Skopje, Macedonia. Methods: Retrospective analysis of patient records of forty four patients with stage III breast was performed. Before admitting at IRO, each patient undergoes surgical treatment, which comprises of radical mastectomy with ipsilateral axillary dissection. Patients were classified according to TNM system of AJCC. All patients were divided in groups according to primary tumor size (unknown, less than 5 cm and more than 5 cm), positive lymph nodes (4–9 positive lymph nodes or more than 9 positive lymph nodes), adjuvant chemotherapy (CMF like, antracyclines based and taxanes based) and elective radiation of thoracic wall and regional lymph nodes (with or without radiation). Results: Statistical analysis of data was performed with Kaplan Meier estimation and log-rank test. In our series only tumor size has significant impact on overall survival of patient (p = 0.0134). Nodal status, type of adjuvant chemotherapy used and radiation has no significant impact on overall survival. Conclusions: Further analysis and longer follow up of this subgroup of patients is necessary to estimate value of different prognostic factors and treatment modalities. No significant financial relationships to disclose.
Intratracheal Gene Delivery of SERCA2a Ameliorates Chronic Post-Capillary Pulmonary Hypertension
Authors: Jaume Aguero, Kiyotake Ishikawa, Lahouaria Hadri, Carlos G. Santos-Gallego, Kenneth M. Fish, Erik Kohlbrenner, Nadjib Hammoudi, Changwon Kho, Ahyoung Lee, Borja Ibáñez, Ana García-Alvarez, Krisztina Zsebo, Bradley A. Maron, Maria Plataki, Valentin Fuster, Jane A. Leopold, Roger J. Hajjar
Journal: Journal of the American College of Cardiology (2016)
Cardiopulmonary baroreflex function in nephrotic rats.
Authors: J C Neahring, S Y Jones, G F DiBona
Journal: Journal of the American Society of Nephrology (1995)

Efferent renal sympathetic nerve activity is increased in experimental nephrotic syndrome and exhibits attenuated cardiopulmonary baroreflex inhibition during volume expansion in anesthetized rats. Additional studies were performed in conscious rats to avoid the potentially confounding influences of anesthesia; these studies used another more specific standardized stimulus for cardiopulmonary baroreflex activation. Sprague Dawley rats were studied 3 to 4 wk after adriamycin injection (3.5 mg/kg iv); all rats developed proteinuria. In sinoaortic denervated rats (anesthetized), graded frequency stimulation of the central end of the cut right vagus nerve produced frequency-dependent decreases in mean arterial pressure, heart rate, and efferent renal sympathetic nerve activity. The decreases in mean arterial pressure and heart rate were similar in control and nephrotic rats, but efferent renal sympathetic nerve activity decreased significantly less in nephrotic than control rats over the entire frequency range (P < 0.02). In sinoaortic denervated rats (conscious), 10% body weight isotonic saline volume expansion decreased mean arterial pressure, heart rate, and efferent renal sympathetic nerve activity. The decreases in mean arterial pressure and heart rate were similar in control and nephrotic rats, but efferent renal sympathetic nerve activity decreased significantly less in nephrotic than control rats over the entire period of volume expansion (P < 0.04). In nephrotic syndrome, the cardiopulmonary baroreflex inhibition of efferent renal sympathetic nerve activity is decreased; the defect lies in the central portion of the reflex. This may contribute to the observed increase in efferent renal sympathetic nerve activity in nephrotic syndrome.
He Says You Are Finished
Authors: Christine Todd
Journal: Annals of Internal Medicine (2016)

On Being a Doctor17 May 2016He Says You Are FinishedChristine Todd, MDChristine Todd, MDFrom Southern Illinois University, Springfield, Illinois.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/M15-2009 Audio Reading - “He Says You Are Finished” Audio. Michael A. LaCombe, MD, Annals Associate Editor, reads "He Says You Are Finished," by C. Todd. Your browser does not support the audio element. Audio player progress bar Step backward in current audio track Play current audio trackPause current audio track Step forward in current audio track Mute current audio trackUnmute current audio track 00:00/ SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail For me, the greatest blessing of being a medical student was the license to inhabit the hospital world as much as I liked. I did everything there: ate, napped in the call rooms, and strolled in the subbasement among the humming pipes. I studied. I loitered. I hung out. And one evening, on ward 7A, I became a doctor.In my last year of medical school, I discovered the mysteries of the infectious disease service and loved it. Fevers boiled up out of those mysteries, but if you were intent on your search, you could root out the cause and ... Author, Article, and Disclosure InformationAffiliations: From Southern Illinois University, Springfield, Illinois.Corresponding Author: Christine Todd, MD, Department of Medical Humanities, Southern Illinois School of Medicine, PO Box 19603, Springfield, IL 62794-9603; e-mail, [email protected]edu. PreviousarticleNextarticle Advertisement Audio Reading - “He Says You Are Finished” Audio. Michael A. LaCombe, MD, Annals Associate Editor, reads "He Says You Are Finished," by C. Todd. Your browser does not support the audio element. Audio player progress bar Step backward in current audio track Play current audio trackPause current audio track Step forward in current audio track Mute current audio trackUnmute current audio track 00:00/ FiguresReferencesRelatedDetails Metrics 17 May 2016Volume 164, Issue 10Page: 696-697KeywordsAntibioticsEmotionsFeversInfectious diseasesMotivationNursesPenicillinPneumoniaShouldersSleep ePublished: 17 May 2016 Issue Published: 17 May 2016 Copyright & PermissionsCopyright © 2016 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...
Multiple sclerosis
Authors: D. Purdy, W. Leedham
Journal: BMJ (2009)

my knees just wouldn't hold me for another step, and  collapsed on the kerb. People going past probably thought  was drunk?a reaction  was to get used to.  went to my GP a couple of weeks later, because  was moving to Singapore and wanted reassurance that the collapse and a few other random experiences of unre sponsive body parts were just a reflection of a more sedentary life since coming back to the UK from Hong Kong in 1990.  had spent five or six years abroad, experiencing life. The GP didn't even examine me?I made it pretty clear that  was returning to southeast Asia to solve the problems that my lifestyle change had created, and he went along with that.  went to Singapore in September 1994 but returned to the UK several times in the following months for family funerals. That Christmas  saw a practice locum in Yorkshire who thought that my recent emotional turmoil was to blame for my odd symptoms (tiredness, some blurred vision, and wobbly walking) and referred me to a therapist. My dad's doctor in Sussex thought  should see a neurologist and referred me to one in Brighton. Both appointments came through for March 1995, so  went home first to Sussex to see the neurologist. He sent me straight for an MRI scan the following week. The technician was really thorough, explaining exactiy what  should expect while  was in the MRI tube for about 45 minutes. The conveyer slid me in and, just a few minutes later, brought me out. The technician said  was done.  was in shock?what had they found? No one was able to tell me anything, that was up to the neurologist. My appointment with the therapist in Yorkshire was coming up, so  called the neurologist and asked whether  should go to the appointment. He said no and asked me to come and see him before his surgery next day. When  first saw you,  thought you had   waited for the other shoe to drop.. .It is  Most people who know me would find it pretty hard to imagine me speechless, but for about 48 hours  was. Before  went back to Singapore  asked if  could scuba dive. I don't know, can you?  think that set the tone for my ability to deal with MS. The diagnos ing neurologist did not act like my life was over, so  certainly wasn't going to. He told me he could not give me a prognosis other than to say that it wouldn't get better so  should do whatever  wanted for as long as  could.
Recovery of brain glucose metabolism in detoxified alcoholics
Authors: N D Volkow, G J Wang, R Hitzemann, J S Fowler, J E Overall, G Burr, A P Wolf
Journal: American Journal of Psychiatry (1994)

To differentiate withdrawal-related abnormalities in brain glucose metabolism among alcoholics from abnormalities that may be irreversible or antedate alcohol use, the authors evaluated metabolic recovery during alcohol detoxification.Regional brain glucose metabolism was measured with positron emission tomography and 2-deoxy-2-[18F]fluoro-D-glucose in 10 male alcoholics at 8-15 days, 16-30 days, and 31-60 days after last use of alcohol. The alcoholics' metabolic values were compared with those of 10 age-matched male healthy volunteers.Brain metabolism increased significantly during detoxification. There were significant differences in global and regional measures between the first and last time points but not between the second and third points, suggesting that recovery occurred predominantly within 16-30 days. Regional increases in metabolism were greater in the frontal regions. Whereas during the first evaluation the alcoholics showed significantly lower metabolism in various brain regions than the comparison group, at the end of detoxification the alcoholics showed significantly lower absolute and relative metabolic values in the basal ganglia and lower relative metabolic values in the parietal cortex. Among the alcoholics, but not the comparison group, metabolism in the frontal, parietal, and left temporal cortexes was negatively correlated with years of alcohol use and with age.This study shows significant increases in brain metabolism during alcohol withdrawal and documents persistent low metabolic levels in the basal ganglia of detoxified alcoholics.
Effects of sodium lactate infusion on cisternal lactate and carbon dioxide levels in nonhuman primates
Authors: J D Coplan, T Sharma, L A Rosenblum, S Friedman, T B Bassoff, R L Barbour, J M Gorman
Journal: American Journal of Psychiatry (1992)

To further the understanding of lactate-induced panic in patients with panic disorder, the authors examined cisternal lactate and carbon dioxide levels in nonhuman primates after infusions of sodium lactate comparable to those used in studies of human beings.CSF and venous blood lactate, pH, PCO2, PO2, and bicarbonate were measured in five ketamine-anesthetized nonhuman primates, without mechanical ventilation, before and after they underwent infusions of sodium lactate. In addition, the same measurements were made for three of the five subjects who were given saline infusions.Despite the development of the characteristic peripheral biochemical effects of infused sodium lactate--increased lactate and bicarbonate levels and metabolic alkalosis--no increases in central lactate or carbon dioxide levels were observed. Saline infusions produced no biochemical effects on venous and cisternal measures.The results of this study are in keeping with previous findings of nonpermeability of the blood-brain barrier to anionic compounds such as lactate. They therefore support theories of lactate panic based on cognitive and/or brainstem misevaluation of peripheral somatic sensations.
BMA Annual Representative Meeting: CMOs criticised over target payments for MMR
Authors: Linda Beecham
Journal: BMJ (2003)

The BMA has criticised the chief medical officers in all parts of the United Kingdom for their attitude to target payments for the measles, mumps, and rubella (MMR) immunisations. But at its annual representative meeting it threw out a proposal calling on the officers to resign. Children are aged 12-15 months when they are given their first dose of the vaccine, and they receive their second dose before they go to school at age 3 to 5 years. GPs receive payments for reaching specific targets for immunising their young patients with the vaccine. But, because of what GPs see as the government's failure to persuade the public of the safety of the vaccine, GPs feel they are being penalised. Dr Grant Kelly, from the local medical committee conference, called on the meeting to urge the four governments to accept that the target payment system was a significant factor in the lack of parents' confidence in the vaccine. Ministers wanted parents to accept the MMR vaccine, but did not want to risk losing votes by pushing it too hard. So the work was pushed on to GPs. But those parents who were in doubt about the vaccine believed that doctors stood to gain. Although Dr Helena McKeown's baby daughter had recently had the MMR vaccine, many of her patients believed that she recommended the vaccine because she was being paid to administer it. Last year the BMA had asked the government to uncouple GPs' pay from the MMR targets.
Progressive Multifocal Leukoencephalopathy After Allogeneic Bone Marrow Transplantation for Acute Myeloid Leukemia
Authors: Hans C Lee, Victor Mulanovich, Yago Nieto
Journal: Journal of the National Comprehensive Cancer Network (2014)

Progressive multifocal leukoencephalopathy (PML) is a rare fatal complication of allogeneic bone marrow transplantation (BMT) resulting from chronic immunosuppression and impaired cellular immunity. This report discusses 2 cases of PML in patients with acute myeloid leukemia after allogeneic BMT. Diagnosis was made based on characteristic brain MRI findings and positive PCR results for John Cunningham virus in the cerebrospinal fluid. Unfortunately, therapeutic options are limited and nearly always result in terminal outcomes. Although immunosuppression is an unavoidable risk of allogeneic BMT, these cases highlight a rare, yet fatal, consequence of prolonged T-cell lymphopenia and impaired cellular immunity after allogeneic BMT in this patient population.
Renal cell carcinoma detected by Tc-99m MDP bone imaging.
Authors: LINDSAY ROBERTSON, ADIL AL-NAHHAS
Journal: Clinical Nuclear Medicine (2001)

ROBERTSON, LINDSAY P. BSc.(HONS), M.B.Ch.B., M.R.C.P.(UK); AL-NAHHAS, ADIL M.B.Ch.B., M.Sc., F.R.C.P. Author Information