tbuckley/cabot-search huggingface dataset:
Analyses of<i>FLG</i>mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV
Authors: M. Li, R. Cheng, M. Shi, J. Liu, G. Zhang, Q. Liu, H. Yu, Z. Yao
Journal: British Journal of Dermatology (2013)

Ichthyosis vulgaris (IV; OMIM 146700) is a very common inherited skin disorder. Loss-of-function mutations in the filaggrin gene (FLG) have been identified as the cause of IV. In a previous study, we found that the percentage of FLG null mutations was lower in IV associated with atopic dermatitis (AD) than in IV not associated with AD (isolated IV). We speculated that some clinical manifestations of IV in patients with AD are not induced by FLG mutations.In order to clarify this issue, we collected 21 IV pedigrees, 33 patients with sporadic isolated IV and 116 patients with AD-associated IV to analyse FLG mutation frequency and filaggrin expression in isolated IV and AD-associated IV.A comprehensive sequencing of the FLG gene in all patients was performed using an overlapping polymerase chain reaction (PCR) strategy. We also studied the immunohistochemistry of profilaggrin/filaggrin protein expression in the skin and measured the mRNA expression using real-time PCR in seven patients, including one patient with IV harbouring the mutation c.3321delA, two patients with AD-associated IV harbouring c.3321delA and c.6834del5, and four patients with AD-associated IV without FLG mutations.The percentage of mutations in the FLG gene was 74% and 43% in patients with isolated IV and patients with AD-associated IV, respectively. Immunohistochemical staining revealed that profilaggrin/filaggrin peptides were remarkably reduced in the epidermis of all the patients. All the patients with either AD or IV showed lower FLG mRNA expression compared with the normal control.These results indicate that factors other than FLG gene mutations can downregulate profilaggrin/filaggrin expression, leading to the ichthyosiform phenotype in the context of AD.
Abstract 2428: Reproducibility of PET-Measured Myocardial Blood Flow Responses to Cold-Pressor-Testing.
Authors: Thomas H Schindler, Xiao-Li Zhang, James Sayre, Magnus Dahlbom, Heinrich R Schelbert
Journal: Circulation (2006)

Background: Despite an increasing use of PET measurements of MBF combined with CPT to non-invasively probe endothelium-dependent coronary vasomotor function, its intraobserver reproducibility has n...
Implementing a community acquired pneumonia care bundle in the acute hospital setting
Authors: Essam Ramhamadany, Sandra Wlson, Philip Eardley, Jasmin Cheema, Joel Johnson, Kamel Dohkia, May Kay, Ron Grant, Majed Shamat, Eamon Ramhamadany, Bobby Mann, Zul Mirza
Journal: European Respiratory Journal (2011)

Objective: The aims are to reliably deliver clinically effective and timely treatment in the management of CAP (community Acquired Pneumonia), to reduce overall variances in care, and to improve the quality of patient care and outcomes.  Methods: Using Improvement Methodology techniques the project team:  Conducted a base line audit, mapped out current patient journey, arranged education sessions for relevant staff members, used a locally customised CAP bundle pack, and used the PDSA Cycle and the sustainability tools.  A multi professional group, including patient representative, used a bespoke reporting tool to record weekly measures of bundle compliance. Non compliance was disseminated to the team for response and feedback. Project team meetings were held weekly, this gave the opportunity for all to monitor progress.  Results: A base line audit of 50 patients was compared with 200 patients in the CAP Care Bundle, over18 months. There was an improvement in providing written information to patients from 0 to 88%, documenting the CURB-65 CAP severity score 32% to 94%, oxygen correctly prescribed 78% to 88%, timely administration of antibiotics within 4 hours of arrival to hospital from 54% to 88%, and antibiotic following BTS guidelines from 48% to 87%.  Implications: Implementing a Care Bundle Pathway can improve patients care, but a high degree of perseverance is required to implement changes and sustain improvements. The success cannot be dependant on only a few champions but needs to have support from the organisation at all levels.  The project was funded and supported by NW London CLAHRC.
Sex Variants: A Study of Homosexual Patterns
Authors: Ben Karpman
Journal: JAMA (1941)

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 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) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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
Antibiotic prophylaxis in cirrhosis: Good and bad
Authors: Javier Fernández, Puneeta Tandon, Jose Mensa, Guadalupe Garcia‐Tsao
Journal: Hepatology (2015)

Patients with cirrhosis, particularly those with decompensated cirrhosis, are at increased risk of bacterial infections that may further precipitate other liver decompensations including acute‐on‐chronic liver failure. Infections constitute the main cause of death in patients with advanced cirrhosis, and strategies to prevent them are essential. The main current strategy is the use of prophylactic antibiotics targeted at specific subpopulations at high risk of infection: prior episode of spontaneous bacterial peritonitis, upper gastrointestinal bleeding, and low‐protein ascites with associated poor liver function. Antibiotic prophylaxis effectively prevents not only the development of bacterial infections in all these indications but also further decompensation (variceal bleeding, hepatorenal syndrome) and improves survival. However, antibiotic prophylaxis is also associated with a clinically relevant and increasing drawback, the development of infections due to multidrug‐resistant organisms. Several strategies have been suggested to balance the risks and benefits of antibiotic prophylaxis. Conclusion: Antibiotic stewardship principles such as the restriction of antibiotic prophylaxis to subpopulations at a very high risk for infection, the avoidance of antibiotic overuse, and early deescalation policies are key to achieve this balance; nonantibiotic prophylactic measures such as probiotics, prokinetics, bile acids, statins, and hematopoietic growth factors could also contribute to ameliorate the development and spread of multidrug‐resistant bacteria in cirrhosis. (H epatology 2016;63:2019‐2031)
Long-term excess risk of heart failure in people with type 1 diabetes: a prospective case-control study
Authors: Annika Rosengren, Daniel Vestberg, Ann-Marie Svensson, Mikhail Kosiborod, Mark Clements, Araz Rawshani, Aldina Pivodic, Soffia Gudbjörnsdottir, Marcus Lind
Journal: The Lancet Diabetes & Endocrinology (2015)
Defining Clinical Benefit in Postmenopausal Patients With Breast Cancer Under Second-Line Endocrine Treatment: Does Quality of Life Matter?
Authors: J. Bernhard, B. Thürlimann, S.-F. Hsu Schmitz, M. Castiglione-Gertsch, F. Cavalli, R. Morant, M.F. Fey, H. Bonnefoi, A. Goldhirsch, C. Hürny
Journal: Journal of Clinical Oncology (1999)

In endocrine therapy trials in advanced breast cancer, patients with response (complete response/partial response [CR/PR]) and patients with stable disease for at least 6 months (SD(6m)) have shown similar survival and therefore are often defined as a population with clinical benefit (patients with CR/PR or SD(6m)). We evaluated the impact of response and/or clinical benefit on quality of life (QL) in postmenopausal patients under second-line endocrine treatment after failure of tamoxifen.One hundred twenty-eight of 177 eligible patients of a randomized trial (Swiss Group for Clinical Cancer Research 20/90) receiving either formestane (250 mg intramuscularly biweekly) or megestrol acetate (160 mg orally daily) were analyzed. The baseline characteristics (with the exception of site of metastases) were balanced among patients with CR/PR, SD(6m), and progressive disease (PD). Patients completed QL indicators at baseline and at 1, 3, 5, 7, 9, and 11 months. Responders were separately compared with nonresponders (patients with SD(6m) or PD) and with patients with SD(6m), and patients with clinical benefit were compared with patients with PD by analysis of covariance with adjustment for baseline scores.Overall, 88% (557 of 634) of expected QL forms were received. In the comparison of responders versus patients with both SD(6m) and PD, responders indicated better physical well-being (P =. 004) and mood (P =.02) at month 3. Compared only with patients with SD(6m), responders showed no significant difference in baseline QL and time to treatment failure (328.5 v 340 days). While under treatment, responders reported significantly better physical well-being (months 3 to 11), mood (months 5 to 11), coping (months 5 to 9), and appetite (months 7 to 11) and less dizziness (month 9) than patients with SD(6m). The changes between baseline and months 5 and 7, respectively, indicated improvement in responders but heterogeneous patterns in patients with SD(6m).Although the CR/PR and SD(6m) groups had similar times to treatment failure, patients with CR/PR reported better QL, suggesting more beneficial response to second-line endocrine treatment. Patients' subjective perspective should be taken into account in this mainly palliative setting. Future trials should be designed so that the CR/PR and SD(6m) groups are investigated separately.
Response of Solid Tumor Cells Exposed to Chemotherapeutic Agents In Vivo: Cell Survival After 2- and 24-Hour Exposure2
Authors: George M. Hahn, Gordon R. Ray, Louise F. Gordon, Robert F. Kallman
Journal: JNCI Journal of the National Cancer Institute (1973)

Journal Article Response of Solid Tumor Cells Exposed to Chemotherapeutic Agents In Vivo: Cell Survival After 2- and 24-Hour Exposure Get access George M. Hahn, George M. Hahn Department of Radiology, Stanford University School of Medicine, Stanford, California 94305 Search for other works by this author on: Oxford Academic PubMed Google Scholar Gordon R. Ray, Gordon R. Ray Department of Radiology, Stanford University School of Medicine, Stanford, California 94305 Search for other works by this author on: Oxford Academic PubMed Google Scholar Louise F. Gordon, Louise F. Gordon Department of Radiology, Stanford University School of Medicine, Stanford, California 94305 Search for other works by this author on: Oxford Academic PubMed Google Scholar Robert F. Kallman Robert F. Kallman Department of Radiology, Stanford University School of Medicine, Stanford, California 94305 Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 50, Issue 2, February 1973, Pages 529–533, https://doi.org/10.1093/jnci/50.2.529 Published: 01 February 1973 Article history Received: 18 August 1972 Accepted: 07 November 1972 Published: 01 February 1973
Network Theory in Autoimmunity
Authors: Nabih I. Abdou, Helen Wall, Herbert B. Lindsley, John F. Halsey, Tsuneo Suzuki
Journal: Journal of Clinical Investigation (1981)

Regulation of serum anti-DNA antibody in systemic lupus erythematosus (SLE) by an antiidiotypic antibody was evaluated. Various sera from SLE patients in active and inactive states of their disease, as well as sera from normal individuals, were first completely depleted of anti-DNA and of DNA by affinity chromatography. The suppressive capacity of equimolar concentrations of the various depleted sera (blocking sera) on target lupus sera were determined. The target sera were from lupus patients with known DNA-binding capacity. Blocking sera from inactive SLE suppressed the binding of autologous anti-DNA antibody to [3H]DNA (n = 19,P < 0.01). Blocking sera from active SLE (n = 19), as well as human serum albumin, did not suppress. Sera from normal donors who had no contact with lupus patients or with lupus sera did not suppress (n = 14, P > 0.5), whereas those from normal donors who had contact with lupus patients or sera did suppress the binding (n = 5,P < 0.02). The anti-anti-DNA antibody suppressive activity in the inactive lupus serum was shown to be localized within the F(ab′)2 portion of immunoglobulin (Ig)G and could not be removed upon adsorption by normal human gammaglobulin. Furthermore, immune complexes could be detected by a Clq binding assay when the inactive lupus blocking sera were incubated with the anti-DNA antibody containing target sera. The specificity of the suppressive serum factor was shown by its inability to block the binding of tetanus toxoid to antitetanus antibody and its ability to block the binding of DNA to F(ab′)2 fragments of active lupus IgG.
Chromosomal Alteration and Development of Tumors. XXI. Cytogenetic Studies of Primary Plasma-Cell Neoplasms Induced in BALB/c Mice&lt;xref ref-type="fn" rid="FN2"&gt;2&lt;/xref&gt;&lt;xref ref-type="fn" rid="FN3"&gt;3&lt;/xref&gt;
Authors: Tosihide H. Yosida, Hirotamit. Imai, Kazuo Moriwaki
Journal: JNCI Journal of the National Cancer Institute (1970)
Pneumocystis jirovecii pneumonia prophylaxis in non-HIV infected patients on immunosuppression; a regional cross-sectional study
Authors: Katherine Rushton, Andrew Wight, Rahul Sarkar, William Kent, Emad Hilal
Journal: European Respiratory Journal (2013)

Background: The risk of acquiring Pneumocystis jirovecii pneumonia (PCP) as an opportunistic infection is well described in HIV, haematological and solid organ transplant patients with clear published guidelines for antibiotic prophylaxis. Outside these groups there is no agreed guidance for patients on immunosuppressive drugs. In non-HIV patients, manifestation is acute and severe with high mortality (35-50% with and up to 100% without treatment). With widening use of these agents physicians need to be aware of the potentially serious risks  Objectives: To quantify the perception of PCP risk and use of prophylaxis amongst clinicians who regularly prescribe immunosuppressant treatment  Methods: An online questionnaire sampling respiratory, gastroenterology and rheumatology consultants in the Mersey Deanery, England  Results: 42/104 consultants replied (21/42 Respiratory, 9/42 Gastroenterology and 11/42 Rheumatology), with 37/42 regularly starting patients on immunosuppressive agents for greater than 4 weeks duration. 17/42 felt that PCP was a significant issue and 16/42 had a patient under their care diagnosed with PCP in the last 2 years. Individual’s practice varied significantly, with prophylaxis given to varying doses of steroids and other named specific treatment regimes. 34/42 (81%) felt there was insufficient guidance on the topic  Conclusion: The majority of clinicians surveyed using immunosuppressive drugs felt there was insufficient guidance for PCP prophylaxis within their specialty. Further research needs to be carried out on patients receiving immunosuppressive agents to avoid preventable mortality and morbidity in these at-risk patient groups.
Abstract 4456: The Impact of Nuisance Bleeding on Clopidogrel Compliance in Patients Undergoing Percutaneous Coronary Intervention with Drug-Eluting Stents
Authors: Probal Roy, Rebecca Torguson, Laurent Bonello, Teruo Okabe, Tina L Pinto Slottow, Daniel H Steinberg, Kimberly Kaneshige, Zhenyi Xue, Lowell F Satler, Kenneth M Kent, William O Suddath, Augusto Pichard, Ron Waksman
Journal: Circulation (2008)

Premature cessation of clopidogrel is a strong risk factor for stent thrombosis. The impact that superficial or nuisance bleeding may have on clopidogrel compliance is not well described. The study...
Anemia and neutropenia in cancer patients receiving chemotherapy
Authors: P. Boyle, C. Robertson, D. J. Kerr
Journal: Journal of Clinical Oncology (2004)

9706 Background: Anemia and neutropenia are common and serious side effects in chemotreated cancer patients. It negatively impacts their quality of life and questions their chemotherapy compliance. Literature has scarcely reported incidence numbers of both complications in Europe. Using a series of cross-sectional surveys, it has been proven possible to estimate the incidence of both conditions over time. Methods: Data were available from study surveys conducted in five European countries (France, Italy, Germany, Spain and United Kingdom) in 1999, 2000, 2001 and 2003, using the same Case Report Form (CRF). Details of one cycle out of all cycles of chemotherapy were recorded retrospectively in 41,114 cancer patients. Anemia was determined as hemoglobin levels <12, <10 or < 8 g/dL and Absolute Neutrophil Count (ANC) cut-off, measuring the neutropenia, was specified at <0.5 × 109/L with fever >38.2 C° for febrile neutropenia (FN). Logistic regression was used to investigate the effects of gender, age, country, chemotherapy type, outcome of cycle number and year of treatment with 95% confidence intervals (CI). Results: Anemia (hemoglobin <12 g/dL) was found in 67% of the cancer patients receiving chemotherapy. Severe anemia (Hb<8g/dL) occurred in 10% of the patients. The incidence was 50% in AML patients compared to only 4% in breast cancer patients. The frequency of anemia was significantly lower in the United Kingdom and higher in Germany. Comparing the results of the last survey (2003) with the first (1999), a two-fold increase in the use of as well blood transfusions as erythropoietins was observed. FN affected 70% of AML patients and averaged 19% in all other cancer types. Conclusions: Overall anemia <10 Hb/gL was found in 25% of the patients receiving chemotherapy. It was more frequent in men, in younger persons and in the initial cycle of the chemotherapy. Further research is required to better identify patients at high risk of anemia, particularly in the initial cycle, since adequate measures of prevention and/or treatment are readily available. Management of neutropenia remained fairly unchanged over the last years in Europe. Author Disclosure Employment or Leadership Consultant or Advisory Stock Ownership Honoraria Research Funding Expert Testimony Other Remuneration Amgen
Concurrent cisplatin, infusional fluorouracil, and conventionally fractionated radiation therapy in head and neck cancer: dose-limiting mucosal toxicity.
Authors: J W Denham, R L Abbott
Journal: Journal of Clinical Oncology (1991)

After a preliminary dose-finding study involving 12 patients with advanced or locally recurrent head and neck cancer, 27 patients were treated on a phase II protocol, using fluorouracil 350 mg/m2/d by continuous intravenous (IV) infusion over 5 days, followed on the sixth day by a 2-hour IV infusion of cisplatin 50 mg/m2, administered during the first and fourth weeks of radiation therapy to total doses between 60 and 64 Gy, using 2 Gy daily fractions. Eight of these 27 patients had American Joint Committee on Cancer Staging (AJCC) stage III disease, and 12 had stage IV disease. Four had recurrent disease after surgery. Three-year follow-up is now available. Twenty-one (77.8%) remitted completely following treatment, and 11 remain free of local and regional relapse at 3 years. Four have developed systemic metastases. Following successful salvage treatment in two cases, estimated determinate survival at 3 years is 64%. Acute toxicity was manageable with this regime. Eleven instances of grade 3 Radiation Therapy Oncology Group/European Organization for Research and Treatment of Cancer (RTOG/EORTC) mucositis were observed, which caused interruptions to radiotherapy in only four cases. No late sequelae have so far been recorded. It is concluded that the protocol described is tolerable but probably did not cause a greater number of locoregional "cures" than would have been expected following conventional radiotherapy alone in this group of patients. The use of infusional fluorouracil with concurrent conventionally fractionated radiation therapy and cisplatin infusion results in mucositis that limits the dose of fluorouracil to levels that are probably subtherapeutic.
Randomized Trial of 3-Hour Versus 24-Hour Infusion of High-Dose Paclitaxel in Patients With Metastatic or Locally Advanced Breast Cancer: National Surgical Adjuvant Breast and Bowel Project Protocol B-26
Authors: Roy E. Smith, Ann M. Brown, Eleftherios P. Mamounas, Stewart J. Anderson, Barry C. Lembersky, James H. Atkins, Henry R. Shibata, Luis Baez, Patricia A. DeFusco, Enrique Davila, Stuart J. Tipping, James D. Bearden, Michael P. Thirlwell
Journal: Journal of Clinical Oncology (1999)

PURPOSE: Paclitaxel is an active drug for the treatment of breast cancer; however, the appropriate duration of administration is unknown. We assessed and compared the response rate, event-free survival, survival, and toxicity of paclitaxel 250 mg/m 2 delivered every 3 weeks as a 3-hour or 24-hour infusion. PATIENTS AND METHODS: A total of 563 women with stage IV or IIIB breast cancer were randomized into one of two groups: 279 received 3-hour paclitaxel and 284 received 24-hour paclitaxel. Patients were stratified by age, stage of disease, and prior therapy. RESULTS: A significantly higher rate of tumor response occurred in the first four cycles of therapy in patients who received the 24-hour infusion of paclitaxel (51% v 41%, respectively; P = .025). Tumor response over all cycles was also significantly higher in the group that received 24-hour infusion (54% v 44%, respectively; P = .023). There were no significant differences in event-free survival or survival between the two arms of the study (P = .9 and .8, respectively). No treatment by stage or by age interactions were observed. During the first four cycles of therapy, at least one episode of ≥ grade 3 toxicity (excluding nadir hematologic values, alopecia, and weight change) occurred in 45% of patients who received the 3-hour paclitaxel infusion and in 50% of those who received the 24-hour paclitaxel infusion. Febrile neutropenia, ≥ grade 3 infection, and ≥ grade 3 stomatitis were less frequent, and severe neurosensory toxicity was more frequent in those who received the 3-hour paclitaxel infusion. Ten treatment-related deaths occurred in the first four cycles. Age, stage, and prior chemotherapy did not influence the effect of treatment. CONCLUSION: When administered as a continuous 24-hour infusion, high-dose paclitaxel results in a higher tumor response rate than when administered as a 3-hour infusion but does not significantly improve event-free survival or survival. Paclitaxel as a 24-hour infusion results in increased hematologic toxicity and decreased neurosensory toxicity.