tbuckley/cabot-search huggingface dataset:
Proportion of Cystic Fibrosis Gene Mutations Not Detected by Routine Testing in Men With Obstructive Azoospermia
Authors: Victor Mak
Journal: JAMA (1999)

YSTIC FIBROSIS (CF) IS THE most common serious autosomal recessive condition in whites, with a prevalence of approximately 1 per 2500 and a carrier frequency of 1 per 25. 1 The gene responsible for CF, called the cystic fibrosis transmembrane conductance regulator (CFTR), encodes the cyclic adenosine monophosphate (cAMP)dependent chloride channel found in the apical membrane of secretory epithelial cells. 1 Clinical features of CF include chronic pulmonary obstruction and infections, exocrine pancreatic insufficiency, neonatal meconium ileus, elevated sweat electrolytes, and male infertility. 1,2][5][6] Studies involving DNA mutation analyses of the CFTR gene have demonstrated that infertile men with ob-structive azoospermia from congenital bilateral absence of vas deferens (CBAVD), congenital unilateral absence of vas deferens (CUAVD), or epi-
Asbestos bodies in the sputum of asbestos workers: correlation with occupational exposure
Authors: C. Paris, F. Galateau-Salle, C. Creveuil, R. Morello, C. Raffaelli, J.C. Gillon, M.A. Billon-Galland, J.C. Pairon, L. Chevreau, M. Letourneux
Journal: European Respiratory Journal (2002)

A cross-sectional medical survey including collection of three consecutive sputum samples was carried out among 270 retired workers of a textile and friction materials factory, in order to investigate the relationship between asbestos body identification and asbestos exposure. The individual cumulative asbestos exposure, determined by means of a plant-specific job-exposure matrix based on asbestos air measurements in the workshops, proved to be heavy with a mean cumulative exposure of 217 fibres x mL(-1) x yr. Macrophages and asbestos bodies were identified in sputum samples by light microscopy. The lung origin of the sputum, suggested by the presence of macrophages and/or asbestos bodies, was confirmed in 82.6% of subjects, and 53% of these samples were positive for asbestos bodies. The prevalence of asbestos bodies was not related to sex, smoking status or latency. Conversely, multivariate analysis showed a positive relationship with cumulative exposure, duration and intensity of exposure to asbestos, as well as age and time since retirement. These findings suggest that sputum analysis for asbestos bodies may remain a relevant and noninvasive marker of heavy occupational exposure to asbestos, even years after retirement. Owing to the new perspectives in lung cancer screening, it might contribute to the identification of high-risk subjects.
How objective are systematic reviews? Differences between reviews on complementary medicine
Authors: K. Linde, S. N Willich
Journal: Journal of the Royal Society of Medicine (2003)

Systematic reviews are considered the most reliable tool to summarize existing evidence. To determine whether reviews that address the same questions can produce different answers we examined systematic reviews of herbal medicine, homeopathy, and acupuncture taken from a previously established database. Information on literature searching, inclusion criteria, selection process, quality assessment, data extraction, methods to summarize primary studies, number of included studies, results and conclusions was compared qualitatively. Seventeen topics (eight on acupuncture, six on herbal medicines, three on homeopathy) had been addressed by 2–5 systematic reviews each. The number of primary studies in the reviews varied greatly within most topics. The most obvious reason for discrepancies between the samples was different inclusion criteria (in thirteen topics). Methods of literature searching may have contributed with some topics but the equivalence of the searches was difficult to assess. Differences were frequently observed in other methodological aspects, in results and in conclusions. This analysis shows that, at least in the three areas examined, systematic reviews often differ considerably. Readers should be aware that apparently minor decisions in the review process can have major impact.
Outcome of carcinoma in situ and early invasive carcinoma of the bronchus.
Authors: M K Mason, J W Jordan
Journal: Thorax (1982)

Seventeen patients in whom a squamous carcinoma in situ of the bronchus had been resected have been followed for up to 16 years. The crude mortality rate for these patients is remarkably high, with seven (41%) dead after five years and 14 (82%) after 10 years. Half the patients had died as a direct result of malignant disease by 10 years--because of recurrence, metastatic disease, or the development of a second tumour. A guarded long-term prognosis must be given in these patients owing to the many deaths (mainly from other respiratory diseases) besides those from recurrent cancer.
Outdoor sports and risk of ultraviolet radiation-related skin lesions in children: evaluation of risks and prevention
Authors: E. Mahé, A. Beauchet, M. de Paula Corrêa, S. Godin-Beekmann, M. Haeffelin, S. Bruant, F. Fay-Chatelard, F. Jégou, P. Saiag, P. Aegerter
Journal: British Journal of Dermatology (2011)

Excessive ultraviolet (UV) radiation exposure can cause skin cancers, skin photoageing and cataracts. Children are targeted by sun-protection campaigns because high sun exposure and sunburn in childhood increase the risk of melanoma in adulthood. Little information is available about UV radiation risk and exposure in children who take part in outdoor sports.To evaluate the risk of developing UV radiation-induced skin lesions run by children who practise outdoor sports, and UV radiation exposure and sun-protection measures during a soccer tournament.Firstly, we evaluated the relationship between melanocytic naevus - a skin lesion linked with exposure to UV radiation - and outdoor sports in 660 11-year-old children. Secondly, we used the occasion of a 1-day soccer tournament held in the spring to evaluate UV radiation-protective measures used by soccer players and the public. We also evaluated the UV radiation index and cloud cover during the tournament, and calculated the UV radiation dose and minimal erythema dose depending on skin phototype.The naevus count and acquired naevus count measured over the 2 years of the study were higher in the 344 children who practised outdoor sports. Sun-protective measures were insufficient for soccer players and the public.This study shows that outdoor sports increase the risk of developing UV radiation-induced skin lesions in childhood. During a 1-day soccer tournament held in the spring, children and their parents were inadequately protected against the sun. These results suggest that sun-protection campaigns should be aimed at children who practise popular outdoor sports.
Development and Validation of Insulin-like Growth Factor-1 Score to Assess Hepatic Reserve in Hepatocellular Carcinoma
Authors: Ahmed O. Kaseb, Lianchun Xiao, Manal M. Hassan, Young Kwang Chae, Ju-Seog Lee, Jean-Nicolas Vauthey, Sunil Krishnan, Sheree Cheung, Hesham M. Hassabo, Thomas Aloia, Claudius Conrad, Steven A. Curley, John M. Vierling, Prasun Jalal, Kanwal Raghav, Michael Wallace, Asif Rashid, James L. Abbruzzese, Robert A. Wolff, Jeffrey S. Morris
Journal: JNCI Journal of the National Cancer Institute (2014)

Child-Turcotte-Pugh (CTP) score is the standard tool to assess hepatic reserve in hepatocellular carcinoma (HCC), and CTP-A is the classic group for active therapy. However, CTP stratification accuracy has been questioned. We hypothesized that plasma insulin-like growth factor 1 (IGF-1) is a valid surrogate for hepatic reserve to replace the subjective parameters in CTP score to improve its prognostic accuracy. We retrospectively tested plasma IGF-1 levels in the training set (n = 310) from MD Anderson Cancer Center. Recursive partitioning identified three optimal IGF-1 ranges that correlated with overall survival (OS): greater than 50ng/mL = 1 point; 26 to 50ng/mL = 2 points; and less than 26ng/mL = 3 points. We modified the CTP score by replacing ascites and encephalopathy grading with plasma IGF-1 value (IGF-CTP) and subjected both scores to log-rank analysis. Harrell's C-index and U-statistics were used to compare the prognostic performance of both scores in both the training and validation cohorts (n = 155). All statistical tests were two-sided. Patients' stratification was statistically significantly stronger for IGF-CTP than CTP score for the training (P = .003) and the validation cohort (P = .005). Patients reclassified by IGF-CTP relative to their original CTP score were better stratified by their new risk groups. Most important, patients classified as A by CTP but B by IGF-CTP had statistically significantly worse OS than those who remained under class A by IGF-CTP in both cohorts (P = .03 and P < .001, respectively, from Cox regression models). AB patients had a worse OS than AA patients in both the training and validation set (hazard ratio [HR] = 1.45, 95% confidence interval [CI] = 1.03 to 2.04, P = .03; HR = 2.83, 95% CI = 1.65 to 4.85, P < .001, respectively). The IGF-CTP score is simple, blood-based, and cost-effective, stratified HCC better than CTP score, and validated well on two independent cohorts. International validation studies are warranted.
The α <sub>v</sub> β <sub>1</sub> integrin plays a critical in vivo role in tissue fibrosis
Authors: Nilgun I. Reed, Hyunil Jo, Chun Chen, Kazuyuki Tsujino, Thomas D. Arnold, William F. DeGrado, Dean Sheppard
Journal: Science Translational Medicine (2015)

An α v β 1 inhibitor attenuated pulmonary and liver fibrosis in mouse models.
Acquired Resistance to Imatinib in Gastrointestinal Stromal Tumor Occurs Through Secondary Gene Mutation
Authors: Cristina R. Antonescu, Peter Besmer, Tianhua Guo, Knarik Arkun, Glory Hom, Beata Koryotowski, Margaret A. Leversha, Philip D. Jeffrey, Diann Desantis, Samuel Singer, Murray F. Brennan, Robert G. Maki, Ronald P. DeMatteo
Journal: Clinical Cancer Research (2005)

Abstract Most gastrointestinal stromal tumors (GIST) have an activating mutation in either KIT or PDGFRA. Imatinib is a selective tyrosine kinase inhibitor and achieves a partial response or stable disease in about 80% of patients with metastatic GIST. It is now clear that some patients with GIST develop resistance to imatinib during chronic therapy. To identify the mechanism of resistance, we studied 31 patients with GIST who were treated with imatinib and then underwent surgical resection. There were 13 patients who were nonresistant to imatinib, 3 with primary resistance, and 15 with acquired resistance after initial benefit from the drug. There were no secondary mutations in KIT or PDGFRA in the nonresistant or primary resistance groups. In contrast, secondary mutations were found in 7 of 15 (46%) patients with acquired resistance, each of whom had a primary mutation in KIT exon 11. Most secondary mutations were located in KIT exon 17. KIT phosphorylation was heterogeneous and did not correlate with clinical response to imatinib or mutation status. That acquired resistance to imatinib in GIST commonly occurs via secondary gene mutation in the KIT kinase domain has implications for strategies to delay or prevent imatinib resistance and to employ newer targeted therapies.
Treatment of pulmonary hypertension secondary to connective tissue diseases
Authors: O. Sanchez, M. Humbert, O. Sitbon, G. Simonneau
Journal: Thorax (1999)

Pulmonary hypertension has been identified as one of the well known life threatening complications of connective tissue diseases.In patients with connective tissue diseases pulmonary hypertension occurs with little or no evidence of parenchymal lung disease.As in primary pulmonary hypertension, the pathophysiology is unknown but the clinical course and pathological findings are similar.Scleroderma, particularly in its CREST variant (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasias), represents the main connective tissue disease associated with pulmonary hypertension.Prevalence varies from 2.3% to 35% in scleroderma 1-3 and may reach 50% in the CREST variant. 2 Pulmonary hypertension occurs in 23-53% of patients with mixed connective tissue diseases, 4-6 in 0.5-14% of cases of systemic lupus erythematosus, 7-10 and much more rarely in those with rheumatoid arthritis, Sjögren's syndrome, and dermatopolymyositis.Connective tissue diseases represented around 10% of the 601 cases of pulmonary hypertension referred to our department from 1981 to 1998.Prognosis is very poor and no curative treatment is available.Stupi et al 1 reported a two year survival rate of 40% in patients with CREST syndrome and pulmonary hypertension compared with 88% in patients with CREST syndrome without pulmonary hypertension.There are no consensus guidelines for the treatment of pulmonary hypertension secondary to connective tissue diseases.Treatment recommendations, modelled on those of primary pulmonary hypertension, enable us to propose a specific treatment for these patients who were once considered untreatable.Because of the specificity of pulmonary hypertension evaluation and monitoring it is necessary to refer these patients to a centre with expertise in the management of pulmonary vascular diseases.Indeed, the risk of sudden death exists in these patients and the treatment itself can be dangerous, particularly the high doses of calcium channel blockers which may precipitate heart failure because of their negative inotropic properties.
Expression of histo-blood group antigens in bronchial squamous metaplasia
Authors: N. Sanchez-Mora, M. Cebollero Presmanes, V. Monroy, M. Herranz Aladro, E. Alvarez-Fernandez
Journal: European Respiratory Journal (2006)

The aim of the present study was to evaluate the expression of blood group antigens in squamous bronchial metaplasia in order to determine whether this factor could identify patients at risk of lung cancer. In total, 100 bronchial biopsies were included in the present study. The cases were classified according to the World Health Organization grading system. Immunohistochemical stains for histo-blood groups A and B, and reactivity tests to p53 and the cellular proliferation index were performed. A total of 56 (56%) patients belonged to blood group A. Among them, six (10.7%) patients who did not express antigen in squamous metaplasia, showed carcinoma at the moment of the biopsy (n = 3) or developed synchronous lung carcinoma (n = 3). A total of nine (9%) patients belonged to blood group B. Loss of antigenic expression was observed in five cases. All of them developed synchronous lung carcinoma. The patients with low- and high-grade dysplasia developed lung cancer in 71 and 100% of the cases, respectively. In conclusion, the findings of the present study suggest that the loss of histo-blood antigens expression is an event in the carcinogenesis of bronchial mucosa and it is usually associated with high-grade lesions and hyperproliferative activity.
Lomotil intoxication in children.
Authors: R M Forrester
Journal: BMJ (1973)

71 ± 4-51 51-44 ± 4-61 52-04 4-64 rates in the lateral popliteal and posterior tibial nerves (P < 0001).The results of our investigation do not support the finding previously reported that lrypertensive patients suffer from a sub- clinical peripheral neuropathy.Even in those -patients with markedly elevated diastolic pressures ( < 150 mm Hg) no significant slowing of conduction was dis- covered.We are very grateful to Mr. Basil Hellman for his assistance with the statistics and to Dr. D.
Valuing Health-Related Quality of Life in Diabetes
Authors: J. Todd Coffey, Michael Brandle, Honghong Zhou, Deanna Marriott, Ray Burke, Bahman P. Tabaei, Michael M. Engelgau, Robert M. Kaplan, William H. Herman
Journal: Diabetes Care (2002)

OBJECTIVE—Cost-utility analyses use information on health utilities to compare medical treatments that have different clinical outcomes and impacts on survival. The purpose of this study was to describe the health utilities associated with diabetes and its treatments, complications, and comorbidities. RESEARCH DESIGN AND METHODS—We studied 2,048 subjects with type 1 and type 2 diabetes recruited from specialty clinics at a university medical center. We administered a questionnaire to each individual to assess demographic characteristics, type and duration of diabetes, treatments, complications, and comorbidities, and we used the Self-Administered Quality of Well Being index (QWB-SA) to calculate a health utility score. We then created regression models to fit the QWB-SA-derived health utility scores to indicator variables for type 1 and type 2 diabetes and each demographic variable, treatment, and complication. The coefficients were arranged in clinically meaningful ways to develop models to describe penalties from the health utility scores for nonobese diabetic men without additional treatments, complications, or comorbidities. RESULTS—The utility scores for nonobese diet-controlled men and women with type 2 diabetes and no microvascular, neuropathic, or cardiovascular complications were 0.69 and 0.65, respectively. The utility scores for men and women with type 1 diabetes and no complications were slightly lower (0.67 and 0.64, respectively). Blindness, dialysis, symptomatic neuropathy, foot ulcers, amputation, debilitating stroke, and congestive heart failure were associated with lower utility scores. CONCLUSIONS—Major diabetes complications are associated with worse health-related quality of life. The health utility scores provided should facilitate studies of the health burden of diabetes and the cost-utility of alternative strategies for the prevention and treatment of diabetes.
The Role of Oncogenes in Hematologic Malignancies
Authors: Linda M. Boxer
Journal: Annual Review of Medicine (1994)

Oncogenes are activated forms of cellular genes involved in normal cell growth and development. Some oncogenes play a role in human malignancies. In hematologic malignancies, researchers have identified many transcription factors as oncogenes based on one of the following criteria: their association with transforming retroviruses in animals, their translocation into either the immunoglobulin or T-cell receptor loci, or the production of fusion proteins resulting from chromosomal translocations. The molecular characterization of oncogenes in hematologic malignancies has led to the discovery of new methods for diagnosis and detection of minimal residual disease. In the future, researchers probably will develop novel treatment strategies to interfere with the function of these oncogenes.
Clinical Effects of Adjuvant Active Specific Immunotherapy Differ between Patients with Microsatellite-Stable and Microsatellite-Instable Colon Cancer
Authors: Vincent A. de Weger, Annelies W. Turksma, Quirinus J.M. Voorham, Zelda Euler, Herman Bril, Alfons J. van den Eertwegh, Elisabeth Bloemena, Herbert M. Pinedo, Jan B. Vermorken, Harm van Tinteren, Gerrit A. Meijer, Erik Hooijberg
Journal: Clinical Cancer Research (2011)

Active specific immunotherapy (ASI) consisting of an autologous tumor cell vaccine given as adjuvant treatment has been shown to improve recurrence-free survival of patients with colon cancer. The aim of the current retrospective study was to investigate whether the beneficial effects of ASI given as adjuvant treatment correlated with microsatellite instability (MSI), which is considered an important biologic determinant of colon cancer.Microsatellite status was assessed on archival tumor material from patients with stage II and III colon cancer. Microsatellite status was next associated with clinical outcome in control and ASI treatment groups using Kaplan-Meier analysis.We identified 162 (83%) microsatellite-stable tumors (MSS) and 34 (17%) MSI tumors. Patients with MSI tumors did well in recurrence-free interval (RFI) as well as disease-specific survival (DSS) irrespective of treatment arm and tumor stage. Patients with MSI tumors had significantly fewer recurrences and prolonged DSS than those with MSS tumors. Patients with MSS Dukes B tumors who received ASI treatment showed a significantly improved recurrence-free survival compared with controls. ASI treatment did not improve recurrence-free interval or DSS for patients with MSS Dukes C tumors.This retrospective study indicated that patients with MSI tumors did well, irrespective of treatment arm and tumor stage. The data also indicate that the clinical benefit, measured as recurrence-free survival, from adjuvant ASI treatment of patients with colon cancer was restricted to patients with MSS Dukes B tumors.
Homoharringtonine-based induction regimens for patients with de-novo acute myeloid leukaemia: a multicentre, open-label, randomised, controlled phase 3 trial
Authors: Jie Jin, Jian-Xiang Wang, Fei-Fei Chen, De-Pei Wu, Jiong Hu, Jian-Feng Zhou, Jian-Da Hu, Jian-Min Wang, Jian-Yong Li, Xiao-Jun Huang, Jun Ma, Chun-Yan Ji, Xiao-Ping Xu, Kang Yu, Han-Yun Ren, Yu-Hong Zhou, Yin Tong, Yin-Jun Lou, Wan-Mao Ni, Hong-Yan Tong, Hua-Feng Wang, Ying-Chang Mi, Xin Du, Bao-An Chen, Yi Shen, Zhu Chen, Sai-Juan Chen
Journal: The Lancet Oncology (2013)
Loading Dose of Warfarin
Authors: Geoffrey C. Lamb
Journal: JAMA (1997)

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