tbuckley/cabot-search huggingface dataset:
Analysis of the Oxidative Damage Repair Genes <i>NUDT1</i>, <i>OGG1</i>, and <i>MUTYH</i> in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC)
Authors: Pilar Garre, Verónica Briceño, Rosa M. Xicola, Brian J. Doyle, Miguel de la Hoya, Julián Sanz, Patricia Llovet, Paula Pescador, Javier Puente, Eduardo Díaz-Rubio, Xavier Llor, Trinidad Caldés
Journal: Clinical Cancer Research (2011)

Abstract Purpose: Several studies have described molecular differences between microsatellite stable hereditary nonpolyposis colorectal cancer (MSS-HNPCC) and microsatellite unstable Lynch syndrome tumors (MSI-HNPCC). These differences highlight the possibility that other instability forms could explain cancer susceptibility in this group of families. The base excision repair (BER) pathway is the major DNA repair pathway for oxidative DNA damage. A defect in this pathway can result in DNA transversion mutations and a subsequent increased cancer risk. Mutations in MUTYH have been associated with increased colorectal cancer (CRC) risk while no association has been described for OGG1 or NUDT1. Experimental Design: We performed mutational screening of the three genes involved in defense against oxidative DNA damage in a set of 42 MSS-HNPCC families. Results: Eight rare variants and 5 frequent variants were found in MSS-HNPCC patients. All variants were previously described by other authors except variant c.285C&amp;gt;T in OGG1. Segregation studies were done and in silico programs were used to estimate the level of amino acid conservation, protein damage prediction, and possible splicing alterations. Variants OGG1 c.137G&amp;gt;A; MUTYH c.1187G&amp;gt;A were detected in Amsterdam I families and cosegregate with cancer. Analysis of OGG1 c.137G&amp;gt;A transcripts showed an inactivation of the splicing donor of exon 1. Conclusions: Two rare variants (OGG1 c.137G&amp;gt;A; MUTYH c.1187G&amp;gt;A) and one common polymorphism (NUDT1 c.426C&amp;gt;T) were associated with CRC risk. We show that the BER pathway can play a significant role in a number of MSS-HNPCC colorectal cancers. More studies could be of interest in order to gain further understanding of yet unexplained CRC susceptibility cases. Clin Cancer Res; 17(7); 1701–12. ©2011 AACR.
PREVENTION AND TREATMENT OF INFECTIONS OF THE HAND
Authors: SUMNER L. KOCH
Journal: JAMA (1941)

Recently I had an opportunity to summarize the results of treatment of all open wounds sustained by the workers in a manufacturing plant located approximately a mile from the hospital with which I am affiliated. The number of injuries was not large—sixtynine in a period of six years—and the injuries were not often serious, consisting for the most part of cleancut wounds resulting from the handling of metal sheets and strips. There were included, however, a number of cases in which division and suture of digital nerves were necessary, 1 case in which division of flexor tendons was done and 2 in which division of extensor tendons was done. The rules for the care of injuries were simple and definite—a sterile dressing was to be applied immediately over the open wound and the injured employee taken to the hospital without delay. The majority of these patients were seen within a
Abstract LB-183: The predictive value of CYP2D6 genotypes for plasma levels of active tamoxifen metabolites in early breast cancer
Authors: Thomas E. Muerdter, Werner Schroth, Liza Bacchus, Wolfgang Simon, Michel Eichelbaum, Matthias Schwab, Hiltrud B. Brauch
Journal: Cancer Research (2010)

Abstract Discussion Note: This abstract was not presented at the AACR 101st Annual Meeting 2010 because the presenter was unable to attend. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr LB-183.
Diffuse Bone Marrow Uptake on F-18 FDG PET in Patients With Myelodysplastic Syndromes
Authors: Kentaro Inoue, Ken Okada, Hideo Harigae, Yasuyuki Taki, Ryoi Goto, Shigeo Kinomura, Shunsuke Kato, Tomohiro Kaneta, Hiroshi Fukuda
Journal: Clinical Nuclear Medicine (2006)

It is well known that hematopoietic cytokine stimulation can cause diffuse increase of FDG accumulation in bone marrow on PET imaging, which simulates that seen in patients with bone marrow metastases. However, diffuse bone marrow FDG uptake can be caused by other etiologies. We report 2 patients who did not have a history of hematopoietic cytokine stimulation. The FDG PET images showed diffuse bone marrow FDG uptake, and the patients were diagnosed as having myelodysplastic syndromes. These cases demonstrate that diffuse FDG uptake by bone marrow can suggest neoplastic disease of the hematopoietic tissues.
Cardiac hypertrophy: stressing out the heart
Authors: J. C. Tardiff
Journal: Journal of Clinical Investigation (2006)

The question of what differentiates physiological from pathological cardiac hypertrophy remains one of the most clinically relevant questions in basic cardiovascular research. The answer(s) to this question will have far-ranging importance in the fight against hypertrophic heart disease and failure. In this issue of the JCI, Perrino et al. have used a unique model system to mimic the pathophysiologic effects of an intermittent pressure overload on the heart — in effect, to examine the basic issue of what determines an in vivo pathogenic stimulus (see the related article beginning on page 1547). Their findings clearly show that it is the nature of the inciting stimulus, as opposed to chronicity, that establishes the initial pathogenic response and that a distinct disruption of the β-adrenergic system is centrally involved in the earliest alterations of myocellular physiology. These results suggest both a new paradigm for treatment options in hypertrophic cardiac disease and novel methodologies for further studies.
Adding 3D imaging to mammography improves breast cancer detection
Authors: S. Mayor
Journal: BMJ (2014)

Combining a three dimensional breast imaging technique with digital mammography improves detection of cancers and reduces the number of women called back for further imaging, according to a US study comparing nearly half a million breast examinations.1

Screening mammography has helped improve the detection of breast cancers but has been criticised for having limited sensitivity, a high rate of false positive results, and overdiagnosing clinically unimportant lesions.

Tomosynthesis provides a 3D image of the breast from an …
Brain Scanning in Patients with Advanced Lung Cancer
Authors: DOUGLAS R. WHITE, HYMAN B. MUSS, ROBERT J. COWAN
Journal: Clinical Nuclear Medicine (1976)

Brain scans are frequently obtained in lung cancer patients with central nervous system (CNS) symptomatology to confirm brain metastases, and in those without CNS symptoms for the detection of occult metastases so that appropriate therapy may be instituted promptly. This study was undertaken to evaluate the impact of brain scanning on survival in patients with inoperable lung cancer. Of 184 consecutive cases of advanced lung cancer reviewed retrospectively, 110 had brain scans performed. Positive brain scans were obtained in 17 of 26 symptomatic patients but in only 4 of 84 asymptomatic patients. The presence of brain metastases did not shorten survival in symptomatic or asymptomatic patients subsequently receiving cranial irradiation. While preoperative brain scanning may prevent unnecessary extensive operation, routine postoperative brain scanning asymptomatic lung cancer patients can be expected to have a low yield. Brain scanning in symptomatic patients is a reliable and sensitive method for confirming brain metastases.
Measures of functional ability (disability) in arthritis in relation to impairment of range of joint movement.
Authors: E M Badley, S Wagstaff, P H Wood
Journal: Annals of the Rheumatic Diseases (1984)

In the World Health Organisation's supplementary classification of the consequences of disease a distinction is made between impairments, such as are related to the site and nature of joint involvement, and any disabilities in everyday activities to which these may give rise. This paper considers the application of these ideas to people with arthritis by examining the extent of graded relationship between individual impairments, reflected by limitations in the range of joint movement, and the number or type of disabilities. Ninety-five people with three different types of arthritis were studied. A 41-item disability questionnaire was completed. Most of the variation was described by only 24 of the latter items. These fell into five broad functional groups--predominantly concerned with mobility, bending down, manual dexterity, bending the arm, and reaching above the head. The constituent activities could be scaled in order of difficulty of accomplishment. Aggregated scores for each of the functional groups were correlated with observed ranges of motion in relevant joints, and the ordering of difficulty was related to decreasing ranges of movement. These findings shed light on the genesis of disability and have implications for the development of more sensitive, specific, and simple methods of assessment in rheumatology. Appreciation of how disability relates to the localisation of disease manifestations provides a means for evaluating current methods of functional assessment and exposes potential biases in such appraisals.
Multiple apocrine hidrocystomas of the eyelids
Authors: E. ALESSI, R. GIANOTTI, A. COGGI
Journal: British Journal of Dermatology (1997)

Journal Article Multiple apocrine hidrocystomas of the eyelids Get access E. ALESSI, E. ALESSI Institute of Dermatological Sciences of the University of Milan, IRCCS Ospedale Maggiore, Milan, Italy Search for other works by this author on: Oxford Academic Google Scholar R. GIANOTTI, R. GIANOTTI Institute of Dermatological Sciences of the University of Milan, IRCCS Ospedale Maggiore, Milan, Italy Search for other works by this author on: Oxford Academic Google Scholar A. COGGI A. COGGI Institute of Dermatological Sciences of the University of Milan, IRCCS Ospedale Maggiore, Milan, Italy Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 137, Issue 4, 1 October 1997, Pages 642–645, https://doi.org/10.1111/j.1365-2133.1997.tb03803.x Published: 01 October 1997 Article history Accepted: 02 May 1997 Published: 01 October 1997
56 ON-TREATMENT RESPONSE-GUIDED THERAPY WITH TELAPREVIR Q8H OR Q12H COMBINED WITH PEGINTERFERON ALFA-2A OR PEGINTERFERON ALFA-2B AND RIBAVIRIN IN TREATMENT-NAIVE GENOTYPE 1 HEPATITIS C (STUDY C208)
Authors: X. Forns, P. Marcellin, P. Ferenci, T. Göser, F. Nevens, G. Carosi, J.P. Drenth, L. Serfaty, K. De Backer, R. van Heeswijk, D. Luo, G. Picchio, M. Beumont
Journal: Journal of Hepatology (2010)
Comment on Evert et al. Nutrition Therapy Recommendations for the Management of Adults With Diabetes. Diabetes Care 2013;36:3821–3842
Authors: Meghan Anne Jardine, Caroline Trapp, Susan Levin
Journal: Diabetes Care (2014)

We read the position statement on nutrition therapy with great interest (1). In our observation, the article appears to have missed some of the major benefits of a whole-foods, plant-based diet, also referred to as a vegan or vegetarian dietary pattern.

The article states that, in a review of six vegetarian and low-fat vegan studies, there was not a consistent improvement in glycemic control or cardiovascular disease risk factors “except when energy intake was restricted and weight was lost.” In fact, all but one of the five vegan intervention studies cited encouraged ad libitum intake of whole grains, legumes, vegetables, and fruit. Participants …
The complete nucleotide sequences of the heavy chain variable regions of six monospecific rheumatoid factors derived from Epstein-Barr virus-transformed B cells isolated from the synovial tissue of patients with rheumatoid arthritis. Further evidence that some autoantibodies are unmutated copies of germ line genes.
Authors: V Pascual, I Randen, K Thompson, M Sioud, O Forre, J Natvig, J D Capra
Journal: Journal of Clinical Investigation (1990)

Structural studies of human monoclonal rheumatoid factors (RF) derived from patients with monoclonal gammapathies have revealed a restriction in the usage of heavy and light chain variable regions. These studies have suggested that germline genes with little if any somatic mutation can generate RF specificity. However, there is no information presently available regarding the primary structure and genetic origin of RF in rheumatoid arthritis. In this study, we have isolated and sequenced the VH regions of six monoclonal RF derived from the synovial membranes of two patients with rheumatoid arthritis and one with the juvenile polyarticular form of the disease. We found the same VH families as previously reported among monoclonal paraproteins with RF activity. However, our sample was diverse regarding the VH, DH, and JH gene segments used. Among VHI RF there was conservation in the length of CDRIII as well as restriction in the amino acid generated at the V-D junction, as opposed to VHIII RF and non-RF VHI molecules that are highly heterogeneous in these two aspects. We also found that different JH gene segments may contribute to RF specificity. The VH, DH, and JH elements of one RF in our study all had clearly identifiable germline counterparts. This RF displays a nearly germline configuration throughout its entire heavy chain and represents another example of an autoantibody encoded by one of the VH gene segments from the preimmune fetal repertoire.
A Clinicopathological Analysis of Lymphoproliferative Disorders in Rheumatoid Arthritis
Authors: Y. Kamogawa, N. Fukuhara, M. Suzuki, S. Nakajima, Y. Okitsu, y. Katsuoka, Y. Onishi, T. Ishii, K. Ishizawa, H. Harigae
Journal: Annals of Oncology (2013)
Transcutaneous doppler jugular venous flow velocity recording.
Authors: V Sivaciyan, N Ranganathan
Journal: Circulation (1978)

Transcutaneous bidirectional Doppler jugular venous flow velocity patterns were classified and correlated in 82 patients with right heart hemodynamics. The normal forward flow pattern was biphasic with systolic flow (Sf) greater than the diastolic flow (Df). With rare exceptions, flow patterns of Sf = Df, Sf is less than Df and Df alone indicated abnormal right heart hemodynamics. Abnormal flow patterns (Sf = Df and Sf is less than Df) seen in post cardiac surgery states, and in some rare patients with severe mitral regurgitation despite normal right-sided pressures, were probably secondary to postoperative change in right atrial compliance in the former and to a Bernheim effect in the latter. The most common cause of retrograde systolic flow in the absence of atrioventricular dissociation was tricuspid regurgitation. Persistent retrograde end-diastolic flow with normal forward flow was associated with high right atrial "a" wave pressures, indicating significant decrease in right ventricular compliance with a vigorous atrial contraction. The study clearly established that the jugular venous flow velocity pattern truly reflected derangements in the right heart hemodynamics, irrespective of the underlying etiology. The applicability to bedside evaluation of the jugular venous pulse and the right heart hemodynamics is emphasized.
Approaching Erectile Dysfunction in Dermatology Patients
Authors: Barry Ladizinski, Daniel G. Federman
Journal: JAMA Dermatology (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 Dermatology HomeNew OnlineCurrent IssueFor Authors Podcast 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 Dermatology journal
Genetically engineered mannosylated-human serum albumin as a versatile carrier for liver-selective therapeutics
Authors: Kenshiro Hirata, Toru Maruyama, Hiroshi Watanabe, Hitoshi Maeda, Keisuke Nakajou, Yasunori Iwao, Yu Ishima, Hidemasa Katsumi, Mitsuru Hashida, Masaki Otagiri
Journal: Journal of Controlled Release (2010)
A Partial Down-regulation of WASP Is Sufficient to Inhibit Podosome Formation in Dendritic Cells
Authors: Aurelie Olivier, Laurence Jeanson-Leh, Gerben Bouma, Daniel Compagno, Johanna Blondeau, Khalil Seye, Sabine Charrier, Siobhan Burns, Adrian J. Thrasher, Olivier Danos, William Vainchenker, Anne Galy
Journal: Molecular Therapy (2005)

The Wiskott Aldrich syndrome protein (WASP) is a hematopoietic-specific cytoskeletal regulator that is necessary for induction of normal immunity. In the context of effective gene therapy for WAS, cellular models of human WASP deficiency are important for definition of the threshold of protein expression required for optimal activity. Using lentiviral vector-mediated RNA interference (RNAi), we were able to down-regulate the levels of human WASP in cell lines and primary cells. In dendritic cells (DC), RNAi-induced WASP deficiency did not impair phenotypic maturation but perturbed cytoskeletal organization. As a result, podosomes, which are actin-rich structures present in immature adherent DC, were formed less efficiently and motility was disturbed. Overall, treatment of cells with RNAi recapitulated the phenotype of cells derived from patients or animals with inactivating mutations of the WAS gene. Interestingly, reduction of the levels of WASP to about 60% of normal was sufficient to inhibit the formation of podosomes in DC, implying that this cell type requires near-normal levels of WASP to sustain physiological cytoskeleton-dependent activities.
Effect of Pregnancy on the Course of Heart Disease
Authors: MARY M. MILLER, JAMES METCALFE
Journal: Circulation (1956)

One hundred and six patients have been restudied three and one-half to 5 years (average 4.1 years) after they were observed with pregnancy and heart disease at the Boston Lying-in Hospital. This re-evaluation indicated that the altered circulatory dynamics of pregnancy may temporarily decrease functional capacity. However, no permanent change in degree of heart disease could be directly attributed to the pregnancy for which these patients were followed in 1950 and 1951.
The House of Obsessive Compulsives
Authors: Sabina Dosani
Journal: BMJ (2005)

Channel 4, 1 and 8 August at 9 pm Rating: ![Graphic][1]</img>![Graphic][2]</img>![Graphic][3]</img>![Graphic][4]</img> T he trailer for The House of Obsessive Compulsives contained a clever hook. A man put his hand down a toilet while a woman looked horrified. This sort of sensationalism, coupled with the fact that it was screened before the reality gameshow Big Brother , riled me. In the hunt for huge audiences, television programmes are given titles that sometimes repel serious viewers. The title of this show suggests the coming together of Big Brother and Hammer House of Horror . This is a pity as the subject, obsessive compulsive disorder, and the three hapless sufferers, their partners, and the therapists involved deserved better. Reality television has brought live sex and a real time autopsy into our front rooms. I work at the Bethlem Hospital, where, in 1808, people paid a penny to see lunatics chained to the walls. Were television viewers getting same voyeuristic thrill in the House of Obsessive Compulsives ? Not necessarily. … [1]: /embed/inline-graphic-1.gif [2]: /embed/inline-graphic-2.gif [3]: /embed/inline-graphic-3.gif [4]: /embed/inline-graphic-4.gif
The Spectrum of Pulmonary Valvular Insufficiency.
Authors: John C. Holmes
Journal: Annals of Internal Medicine (1967)

s1 May 1967The Spectrum of Pulmonary Valvular Insufficiency.John C. Holmes, M.D., F.A.C.P., Noble O. Fowler, M.D., F.A.C.P., James Helmsworth, M.D.John C. Holmes, M.D., F.A.C.P.Search for more papers by this author, Noble O. Fowler, M.D., F.A.C.P.Search for more papers by this author, James Helmsworth, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-66-5-1037_1 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptPulmonary valve incompetence is not uncommon in patients with severe pulmonary hypertension. Pulmonary valvular insufficiency is rare in patients with normal pulmonary artery pressure. The clinical recognition of such isolated pulmonary valvular incompetence presents many difficulties. Our patients, at first, were either unrecognized or were incorrectly diagnosed as having aortic insufficiency. The diastolic murmur of isolated pulmonary valvular insufficiency is often delayed and of low pitch and may be confused with a gallop sound or a tricuspid diastolic murmur.This report describes seven patients, aged 8 to 63 years, with pulmonary incompetence and normal pulmonary artery systolic pressures. These patients... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: John C. Holmes, M.D., F.A.C.P.; Noble O. Fowler, M.D., F.A.C.P.; James Helmsworth, M.D.Affiliations: Cincinnati, Ohio PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 May 1967Volume 66, Issue 5Page: 1037-1037KeywordsPulmonary arteriesPulmonary hypertensionSystolic pressure ePublished: 1 December 2008 Issue Published: 1 May 1967 PDF downloadLoading ...
Preliminary Report of Late Recurrences, at 5 Years or More, after Stereotactic Body Radiation Therapy for Non-small Cell Lung Cancer
Authors: Yukinori Matsuo, Keiko Shibuya, Yasushi Nagata, Yoshiki Norihisa, Masaru Narabayashi, Katsuyuki Sakanaka, Nami Ueki, Takashi Mizowaki, Masahiro Hiraoka
Journal: Journal of Thoracic Oncology (2012)
Beware of medicalising the fear of uncertainty and death
Authors: L. Polak
Journal: BMJ (2014)

I strongly second Heath’s call for clinicians to be more tolerant of uncertainty, and agree with her that this requires courage, particularly given the prevalent culture of blame.1

Nobody could disagree with the recommendation that people should be screened for their potential to benefit from risk reducing interventions “only when medical care is appropriate and will produce …