tbuckley/cabot-search huggingface dataset:
Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma
Authors: Y-H. Liang, C-S. Sun, X-Y. Ye, W. Zhang, S. Yang, X-J. Zhang
Journal: British Journal of Dermatology (2008)

Journal Article Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma Get access Y‐H. Liang, Y‐H. Liang Department of Dermatology, First Affiliated Hospital, Gannan Medical College, 23 Yixueyuan Road, Ganzhou, Jiangxi 341000, ChinaDepartment of Dermatology, First Affiliated Hospital, Anhui Medical University, 69 Meishan Road, Hefei, Anhui 230032, China E‐mail: liangdoctor@163.com Search for other works by this author on: Oxford Academic Google Scholar C‐S. Sun, C‐S. Sun Department of Dermatology, First Affiliated Hospital, Gannan Medical College, 23 Yixueyuan Road, Ganzhou, Jiangxi 341000, China Search for other works by this author on: Oxford Academic Google Scholar X‐Y. Ye, X‐Y. Ye Department of Dermatology, First Affiliated Hospital, Gannan Medical College, 23 Yixueyuan Road, Ganzhou, Jiangxi 341000, China Search for other works by this author on: Oxford Academic Google Scholar W. Zhang, W. Zhang Department of Dermatology, First Affiliated Hospital, Gannan Medical College, 23 Yixueyuan Road, Ganzhou, Jiangxi 341000, China Search for other works by this author on: Oxford Academic Google Scholar S. Yang, S. Yang Department of Dermatology, First Affiliated Hospital, Anhui Medical University, 69 Meishan Road, Hefei, Anhui 230032, China E‐mail: liangdoctor@163.com Search for other works by this author on: Oxford Academic Google Scholar X‐J. Zhang X‐J. Zhang Department of Dermatology, First Affiliated Hospital, Anhui Medical University, 69 Meishan Road, Hefei, Anhui 230032, China E‐mail: liangdoctor@163.com Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 158, Issue 5, 1 May 2008, Pages 1156–1158, https://doi.org/10.1111/j.1365-2133.2008.08491.x Published: 01 May 2008
The Calcium Paradox
Authors: A Zimmerman
Journal: Cardiovascular Research (2000)

Much of the present knowledge of the heart's physiology is derived from experiments with isolated perfused hearts. Usually based on the technique of Langendorff. It was, and largely still is, a logic defying problem that the survival of an isolated heart in a perfusion apparatus is only possible for a very limited time. In the early sixties I was working in the laboratory of Professor Durrer in the Wilhelmina Gasthuis in Amsterdam and decided to try to solve that problem. A close friend of mine, W.C. Hulsmann, was willing to help with …
Benzoylperoxide versus topical erythromycin in the treatment of acne vulgaris
Authors: B. BURKE, E.A. EADY, W.J. CUNLIFFE
Journal: British Journal of Dermatology (1983)

In a double‐blind clinical study in ninety‐four subjects a 1.5% (w/v) erythromycin lotion was as effective as 5% (w/v) benzoyl peroxide gel in significantly reducing the number of small inflamed lesions and the overall acne severity. However, benzoyl peroxide also significantly reduced the number of non‐inflamed lesions whereas erythromycin had no effect on these lesions. This study supports the view that, although topical erythromycin is of value in the treatment of mild or moderate acne vulgaris, long established, safe and effective remedies should not be replaced by topical antibiotics until more comparative studies and investigations on bacterial resistance have been completed.
Increased oncolytic potency of the conditionally replicative adenovirus Add24-p53 when combined with radiotherapy in vivo
Authors: S. Idema, ML Lamfers, S. Heukelom, V.W. van Beusechem, W.R. Gerritsen, W.P. Vandertop, C.M. Dirven
Journal: Neuro-Oncology (2005)
Spirometric Lung Function in School-Age Children
Authors: Sarah J. Kotecha, W. John Watkins, Jonathan Heron, John Henderson, Frank D. Dunstan, Sailesh Kotecha
Journal: American Journal of Respiratory and Critical Care Medicine (2010)

Few studies have investigated childhood respiratory outcomes of intrauterine growth retardation (IUGR), and it is unclear if catch-up growth in these children influences lung function.We determined if lung function differed in 8- to 9-year-old children born at term with or without growth retardation, and, in the growth-retarded group, if lung function differed between those who did and those who did not show weight catch up.Caucasian singleton births of 37 weeks or longer gestation from the Avon Longitudinal Study of Parents and Children (n = 14,062) who had lung spirometry at 8-9 years of age were included (n = 5,770).Infants with gestation-appropriate birthweight (n = 3,462) had significantly better lung function at 8-9 years of age than those with IUGR (i.e., birthweight <10th centile [n = 576] [SD differences and confidence intervals adjusted for sex, gestation, maternal smoking during pregnancy, and social class: FEV(1), -0.198 (-0.294 to -0.102), FVC, -0.131 (-0.227 to -0.036), forced midexpiratory flow between 25 and 75% of vital capacity -0.149 (-0.246 to -0.053)]). Both groups had similar respiratory symptoms. All spirometry measurements were higher in children with IUGR who had weight catch-up growth (n = 430) than in those without (n = 146), although the differences were not statistically significant. Both groups remained significantly lower than control subjects. Growth-retarded asymmetric and symmetric children had similar lung function.IUGR is associated with poorer lung function at 8-9 years of age compared with control children. Although the differences were not statistically significant, spirometry was higher in children who showed weight catch-up growth, but remained significantly lower than the control children.
Response to Comment on: Polonsky et al. Structured Self-Monitoring of Blood Glucose Significantly Reduces A1C Levels in Poorly Controlled, Noninsulin-Treated Type 2 Diabetes: Results From the Structured Testing Program Study. Diabetes Care 2011;34:262–267
Authors: William H. Polonsky, Lawrence Fisher, Charles H. Schikman, Deborah A. Hinnen, Christopher G. Parkin, Zhihong Jelsovsky, Bettina Petersen, Matthias Schweitzer, Robin S. Wagner
Journal: Diabetes Care (2011)

We thank Stephens et al. (1) for their comments in response to the Structured Testing Program (STeP) study. It is evident that we share an interest in ensuring that health care resources are used effectively, and we therefore welcome the opportunity to address the issues you have raised.

As noted in the letter, a number of studies in noninsulin-treated diabetes have shown data similar to those of Stephens et al.—suggesting that self-monitoring of blood glucose (SMBG), as it is typically done, offers little or no glycemic benefit (2,3). We do …
Long-Term Efficacy and Safety of Linagliptin in Patients With Type 2 Diabetes and Severe Renal Impairment
Authors: Janet B. McGill, Lance Sloan, Jennifer Newman, Sanjay Patel, Christophe Sauce, Maximilian von Eynatten, Hans-Juergen Woerle
Journal: Diabetes Care (2012)

OBJECTIVE This placebo-controlled study assessed long-term efficacy and safety of the dipeptidyl peptidase-4 inhibitor linagliptin in patients with type 2 diabetes and severe renal impairment (RI). RESEARCH DESIGN AND METHODS In this 1-year, double-blind study, 133 patients with type 2 diabetes (HbA1c 7.0–10.0%) and severe RI (estimated glomerular filtration rate [eGFR] &amp;lt;30 mL/min/1.73 m2) at screening were randomized to linagliptin 5 mg (n = 68) or placebo (n = 65) once daily, added to existing background therapy. The primary efficacy end point was HbA1c change from baseline to week 12. Efficacy and safety end points were assessed after 1 year. RESULTS At week 12, adjusted mean HbA1c decreased by −0.76% with linagliptin and −0.15% with placebo (treatment difference, −0.60%; 95% CI −0.89 to −0.31; P &amp;lt; 0.0001). HbA1c improvements were sustained with linagliptin (−0.71%) over placebo (0.01%) at 1 year (treatment difference −0.72%, −1.03 to −0.41; P &amp;lt; 0.0001). Mean insulin doses decreased by −6.2 units with linagliptin and −0.3 units with placebo. Overall adverse event incidence was similar over 1 year (94.1 vs. 92.3%). Incidence of severe hypoglycemia with linagliptin and placebo was comparably low (three patients per group). Linagliptin and placebo had little effect on renal function (median change in eGFR, −0.8 vs. −2.2 mL/min/1.73 m2), and no drug-related renal failure occurred. CONCLUSIONS In patients with type 2 diabetes and severe RI, linagliptin provided clinically meaningful improvements in glycemic control with very low risk of severe hypoglycemia, stable body weight, and no cases of drug-related renal failure. The potential for linagliptin to spare insulin and provide long-term renal safety warrants further investigations.
Exercise-induced bronchial hyperresponsiveness and parental ISAAC questionnaire responses
Authors: A-L. Ponsonby, D. Couper, T. Dwyer, A. Carmichael, R. Wood-Baker
Journal: European Respiratory Journal (1996)

The predictive value of parental questionnaire responses for exercise-induced bronchoconstriction in childhood asthma has not been fully clarified. The aim of this study was to compare exercise-induced bronchial hyperresponsiveness in 7 year old children with parental responses to core questions in the International Study of Asthma and Allergies in Childhood (ISAAC) study. A cross-sectional study was conducted on 191 (91% of eligible) children from seven randomly selected schools in Southern Tasmania. Study measurements included a parental questionnaire and exercise challenge testing, using a recently validated 6 min free-running protocol. The response to exercise was assessed using forced expiratory volume in one second (FEV1) measurement. The median percentage fall in FEV1 was significantly higher in children whose parents responded positively to ISAAC questions on a history of wheeze (p = 0.0031) or asthma (p = 0.0005), recent wheeze (p = 0.0005), sleep disturbance due to wheeze (p = 0.0005), or exercise-induced wheeze (p = 0.0015). Receiver operating characteristic (ROC) curve analysis showed exercise-induced bronchial hyperresponsiveness to be a good indicator of current asthma status. Using a 12% or greater fall in FEV1 postexercise as a positive test response, the exercise challenge had sensitivity and specificity estimates for current asthma and exercise-induced wheeze of (0.58 and 0.77) and (0.60 and 0.77), respectively. In conclusion, the respiratory response to exercise was consistent with parental responses to the ISAAC questionnaire in a population-based sample of 7 year old children. These findings will assist interpretation of large ISAAC studies in terms of asthma prevalence.
Using nurses for preventive activities with computer assisted follow up: a randomised controlled trial.
Authors: J. Robson, K. Boomla, S. Fitzpatrick, A. J. Jewell, J. Taylor, J. Self, M. Colyer
Journal: BMJ (1989)

To assess whether an organised programme of prevention including the use of a health promotion nurse noticeably improved recording and follow up of cardiovascular risk factors and cervical smears in a general practice that had access to computerised cell and recall.Randomised controlled trial.General practice in inner London.All 3206 men and women aged 30-64 registered with the practice.The intervention group had their risk factors ascertained and followed up by the health promotion nurse and the general practitioner, whereas those in the control group were managed by the general practitioner alone.Recording and follow up of blood pressure and cervical smears after three years. Recording of smoking, family history of ischaemic heart disease, and serum cholesterol concentrations were also examined.When the trial was stopped after two years the measurements of blood pressure in the preceding five years were 93% (1511/1620) v 73% (1160/1586) (95% confidence interval for difference 17.5 to 22.7%) for intervention and control groups respectively. For patients with hypertension the figures were 97% (104/107) v 69% (80/116) (18.2 to 38.2%). For women the proportion who had had a cervical smear in the preceding three years were 76% (606/799) v 49% (392/806) (22.5 to 31.9%). Recording of smoking, family history of ischaemic heart disease, and serum cholesterol concentrations was also higher in the intervention group compared with the control group.An organised programme, which includes a nurse with specific responsibility for adult prevention, is likely to make an important contribution to recording of risk factors and follow up of those patients with known risks.
Survival after Initial Diagnosis of Alzheimer Disease
Authors: Eric B. Larson, Marie-Florence Shadlen, Li Wang, Wayne C. McCormick, James D. Bowen, Linda Teri, Walter A. Kukull
Journal: Annals of Internal Medicine (2004)

Background: Alzheimer disease is an increasingly common condition in older people. Knowledge of life expectancy after the diagnosis of Alzheimer disease and of associations of patient characteristics with survival may help planning for future care. Objective: To investigate the course of Alzheimer disease after initial diagnosis and examine associations hypothesized to correlate with survival among community-dwelling patients with Alzheimer disease. Design: Prospective observational study. Setting: An Alzheimer disease patient registry from a base population of 23 000 persons age 60 years and older in the Group Health Cooperative, Seattle, Washington. Patients: 521 newly recognized persons with Alzheimer disease enrolled from 1987 to 1996 in an Alzheimer disease patient registry. Measurements: Baseline measurements included patient demographic features, Mini-Mental State Examination score, Blessed Dementia Rating Scale score, duration since reported onset of symptoms, associated symptoms, comorbid conditions, and selected signs. Survival was the outcome of interest. Results: The median survival from initial diagnosis was 4.2 years for men and 5.7 years for women with Alzheimer disease. Men had poorer survival across all age groups compared with females. Survival was decreased in all age groups compared with the life expectancy of the U.S. population. Predictors of mortality based on proportional hazards models included a baseline Mini-Mental State Examination score of 17 or less, baseline Blessed Dementia Rating Scale score of 5.0 or greater, presence of frontal lobe release signs, presence of extrapyramidal signs, gait disturbance, history of falls, congestive heart failure, ischemic heart disease, and diabetes at baseline. Limitations: The base population, although typical of the surrounding Seattle community, may not be representative of other, more diverse populations. Conclusions: In this sample of community-dwelling elderly persons who received a diagnosis of Alzheimer disease, survival duration was shorter than predicted on the basis of U.S. population data, especially for persons with onset at relatively younger ages. Features significantly associated with reduced survival at diagnosis were increased severity of cognitive impairment, decreased functional level, history of falls, physical examination findings of frontal release signs, and abnormal gait. The variables most strongly associated with survival were measures of disease severity at the time of diagnosis. These results should be useful to patients and families experiencing Alzheimer disease, other caregivers, clinicians, and policymakers when planning for future care needs.
Cervical intraepithelial neoplasia.
Authors: D. Jenkins, M. H. Jones
Journal: BMJ (1988)

Epidemiology of Cervical Intraepithelial Neoplasia - What is the Role of Human Papillomavirus? Cervical Cancer Screening - State of the Art Human Papillomavirus Tests Glandular Lesions of the Cervix - Diagnostic and Therapeutic Dilemma Management of Low Grade Lesions- Follow Up or Treat? Cryotherapy Cold Coagulation Electrocoagulation Diathermy Laser Vaporization and Excisional Techniques in the Treatment of Cervical Intraepithelial Neoplasia Large Loop Excision of the Transformation Zone Cone Biopsy and Hysterectomy in the Management of Cervical Intraepithelial Neoplasia.
Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer
Authors: Fergus J. Couch, Steven N. Hart, Priyanka Sharma, Amanda Ewart Toland, Xianshu Wang, Penelope Miron, Janet E. Olson, Andrew K. Godwin, V. Shane Pankratz, Curtis Olswold, Seth Slettedahl, Emily Hallberg, Lucia Guidugli, Jaime I. Davila, Matthias W. Beckmann, Wolfgang Janni, Brigitte Rack, Arif B. Ekici, Dennis J. Slamon, Irene Konstantopoulou, Florentia Fostira, Athanassios Vratimos, George Fountzilas, Liisa M. Pelttari, William J. Tapper, Lorraine Durcan, Simon S. Cross, Robert Pilarski, Charles L. Shapiro, Jennifer Klemp, Song Yao, Judy Garber, Angela Cox, Hiltrud Brauch, Christine Ambrosone, Heli Nevanlinna, Drakoulis Yannoukakos, Susan L. Slager, Celine M. Vachon, Diana M. Eccles, Peter A. Fasching
Journal: Journal of Clinical Oncology (2014)

Purpose Recent advances in DNA sequencing have led to the development of breast cancer susceptibility gene panels for germline genetic testing of patients. We assessed the frequency of mutations in 17 predisposition genes, including BRCA1 and BRCA2, in a large cohort of patients with triple-negative breast cancer (TNBC) unselected for family history of breast or ovarian cancer to determine the utility of germline genetic testing for those with TNBC. Patients and Methods Patients with TNBC (N = 1,824) unselected for family history of breast or ovarian cancer were recruited through 12 studies, and germline DNA was sequenced to identify mutations. Results Deleterious mutations were identified in 14.6% of all patients. Of these, 11.2% had mutations in the BRCA1 (8.5%) and BRCA2 (2.7%) genes. Deleterious mutations in 15 other predisposition genes were detected in 3.7% of patients, with the majority observed in genes involved in homologous recombination, including PALB2 (1.2%) and BARD1, RAD51D, RAD51C, and BRIP1 (0.3% to 0.5%). Patients with TNBC with mutations were diagnosed at an earlier age (P &lt; .001) and had higher-grade tumors (P = .01) than those without mutations. Conclusion Deleterious mutations in predisposition genes are present at high frequency in patients with TNBC unselected for family history of cancer. Mutation prevalence estimates suggest that patients with TNBC, regardless of age at diagnosis or family history of cancer, should be considered for germline genetic testing of BRCA1 and BRCA2. Although mutations in other predisposition genes are observed among patients with TNBC, better cancer risk estimates are needed before these mutations are used for clinical risk assessment in relatives.
The relationship between calcium, phosphorus, and sodium intake, race, and blood pressure in children with renal insufficiency
Authors: H Trachtman, J C Chan, R Boyle, D Farina, H J Baluarte, V M Chinchilli, I G Dresner, L G Feld
Journal: Journal of the American Society of Nephrology (1995)

Nutritional data compiled during the Growth Failure in Children with Renal Diseases Clinical Trial were analyzed to determine the relationship between the dietary intake of divalent minerals and sodium, nutritional status, and serum calcium, phosphorus, and parathyroid hormone (PTH) concentrations and blood pressure in black versus white children. One hundred eighteen patients are included in this report; 25 were black (21%) and 93 were white (79%). Although more of the blacks were male, the age distribution, midarm circumference, midarm muscle circumference, blood pressure, and serum calcium, phosphorus, and PTH concentrations were comparable in the two groups. Phosphorus intake was within the recommended daily allowance in both groups; in contrast, calcium intake was inadequate in all patients: 81% of the recommended daily allowance in whites, and 74% in blacks. Sixteen children were noted to be hypertensive during the observation period; six patients were receiving a variety of antihypertensive medications, including diuretics in two children. Linear regression analysis revealed that systolic and diastolic blood pressures were directly related to calcium and phosphorus intake in black patients. In white children, only dietary phosphorus intake and diastolic blood pressure were directly related. There was no relationship between sodium intake or GFR and blood pressure in the white or black children. PTH levels were directly correlated with systolic and diastolic blood pressure in all children. The correlations between PTH and blood pressure were stronger in white versus black patients.(ABSTRACT TRUNCATED AT 250 WORDS)
Recruitment of Foxp3+ T regulatory cells mediating allograft tolerance depends on the CCR4 chemokine receptor
Authors: Iris Lee, Liqing Wang, Andrew D. Wells, Martin E. Dorf, Engin Ozkaynak, Wayne W. Hancock
Journal: The Journal of Experimental Medicine (2005)

Although certain chemokines and their receptors guide homeostatic recirculation of T cells and others promote recruitment of activated T cells to inflammatory sites, little is known of the mechanisms underlying a third function, migration of Foxp3(+) regulatory T (T reg) cells to sites where they maintain unresponsiveness. We studied how T reg cells are recruited to cardiac allografts in recipients tolerized with CD154 monoclonal antibody (mAb) plus donor-specific transfusion (DST). Real-time polymerase chain reaction showed that intragraft Foxp3 levels in tolerized recipients were approximately 100-fold higher than rejecting allografts or allografts associated with other therapies inducing prolonged survival but not tolerance. Foxp3(+) cells were essential for tolerance because pretransplant thymectomy or peritransplant depletion of CD25(+) cells prevented long-term survival, as did CD25 mAb therapy in well-functioning allografts after CD154/DST therapy. Analysis of multiple chemokine pathways showed that tolerance was accompanied by intragraft up-regulation of CCR4 and one of its ligands, macrophage-derived chemokine (CCL22), and that tolerance induction could not be achieved in CCR4(-/-) recipients. We conclude that Foxp3 expression is specifically up-regulated within allografts of mice displaying donor-specific tolerance, that recruitment of Foxp3-expressing T reg cells to an allograft tissue is dependent on the chemokine receptor, CCR4, and that, in the absence of such recruitment, tolerizing strategies such as CD154 mAb therapy are ineffectual.