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Combined Cohort (combined + cohort)
Selected AbstractsLow proportion of whole exon deletions causing phenylketonuria in Denmark and Germany,,HUMAN MUTATION, Issue 2 2007Lisbeth Birk Mřller Abstract Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by mutations of the gene encoding phenylalanine hydroxylase (PAH). More than 500 different PAH mutations have been identified and about 90% of these are single base mutations. Although the identification rate of the PAH mutations is generally very high, some variants remain unidentified. A fraction of these mutations are the result of genomic deletions or duplications, which are not recognized with standard PCR-based methods. Here we present the results of exon deletion or duplication analysis in a total of 34 families, in which two mutations had not been identified using conventional diagnostic screening techniques. Using multiplex ligation-dependent probe amplification (MLPA), we found a deletion covering exon 1 and exon 2 (c.1-?_168+?del) in one patient, a deletion of exon 3 (c.169-?_352+?del) in four patients, and a deletion of exon 5 (c.442-?_509+?del) in two patients. A deletion was thus detected in about 20% (7/34) of the families tested. Out of a combined cohort of 570 independent PKU patients from Denmark and Germany, exon deletions were identified in a total of four patients. The estimated allelic frequency of exon deletions in PKU patients in these two populations is therefore below 0.5%. © 2007 Wiley-Liss, Inc. [source] Comparison of risk factors for colon and rectal cancerINTERNATIONAL JOURNAL OF CANCER, Issue 3 2004Esther K. Wei Abstract Predictors of colorectal cancer have been extensively studied with some evidence suggesting that risk factors vary by subsite. Using data from 2 prospective cohort studies, we examined established risk factors to determine whether they were differentially associated with colon and rectal cancer. Our study population included 87,733 women from the Nurses' Health Study (NHS) and 46,632 men from the Health Professionals Follow Up Study (HPFS). Exposure information was collected via biennial questionnaires (dietary variables were collected every 4 years). During the follow-up period (NHS: 1980 to May 31, 2000; HPFS: 1986 to January 31, 2000), we identified 1,139 cases of colon cancer and 339 cases of rectal cancer. We used pooled logistic regression to estimate multivariate relative risks for the 2 outcomes separately and then used polytomous logistic regression to compare these estimates. In the combined cohort, age, gender, family history of colon or rectal cancer, height, body mass index, physical activity, folate, intake of beef, pork or lamb as a main dish, intake of processed meat and alcohol were significantly associated with colon cancer risk. However, only age and sex were associated with rectal cancer. In a stepwise polytomous logistic regression procedure, family history and physical activity were associated with statistically significant different relative risks of colon and rectal cancer. Our findings support previous suggestions that family history and physical activity are not strong contributors to the etiology of rectal cancer. Future investigations of colon or rectal cancer should take into consideration risk factor differences by subsite. © 2003 Wiley-Liss, Inc. [source] Injection versus medialization laryngoplasty for the treatment of unilateral vocal fold paralysis,THE LARYNGOSCOPE, Issue 9 2010Follow-Up at Six Months Abstract Objectives/Hypothesis: To determine whether injection laryngoplasty or medialization laryngoplasty is more effective in the long-term treatment of unilateral vocal fold paralysis (UVFP). Study Design: A retrospective study of patients with UFVP who underwent either injection or medialization laryngoplasty at the University of Arkansas for Medical Sciences between July 29, 2003 and November 18, 2005. Methods: The data analyzed included patient characteristics and type of intervention, along with the pretreatment and post-treatment parameters of videostrobolaryngoscopy, perceptual voice analysis, and patients' subjective assessment of voice handicap. Results: Thirty-four patients were evaluated, 15 new and 19 from a previous study. The average time from intervention to post-treatment evaluation in the new cohort was 4.8 months (range, 1.5,10.5 months). The average time from intervention to post-treatment in the combined cohort was 6.4 months (range, 1,24 months). Improvements were demonstrated in each of the measured voice parameters in both the injection and the medialization groups, and no significant differences were found in the degree of improvement between the two groups. Limited data on aerodynamic and acoustic voice measurements showed a trend toward improvement in each treatment group. Conclusions: Injection and medialization laryngoplasty were comparable in achieving voice improvement at the average long-term follow-up of 6 months. Laryngoscope, 2010 [source] Multicenter Validation of the Philadelphia EMS Admission Rule (PEAR) to Predict Hospital Admission in Adult Patients Using Out-of-hospital DataACADEMIC EMERGENCY MEDICINE, Issue 6 2009Zachary F. Meisel MD Abstract Objectives:, The objective was to validate a previously derived prediction rule for hospital admission using routinely collected out-of-hospital information. Methods:, The authors performed a multicenter retrospective cohort study of 1,500 randomly selected, adult patients transported to six separate emergency departments (EDs; three community and three academic hospitals in three separate health systems) by a city-run emergency medical services (EMS) system over a 1-year period. Patients younger than 18 years or who bypassed the ED to be evaluated by trauma, obstetric, or psychiatric teams were excluded. The score consisted of six weighted elements that generated a total score (0,14): age , 60 years (3 points); chest pain (3); shortness of breath (3); dizzy, weakness, or syncope (2); history of cancer (2); and history of diabetes (1). Receiver operator characteristic (ROC) curves for the decision rule and admission rates were calculated among individual hospitals and for the entire cohort. Results:, A total of 1,102 patients met inclusion criteria. The admission rate for the entire cohort was 40%, and individual hospital admission rates ranged from 28% to 57%. Overall, 34% had a score of ,4, and 29% had a score of ,5. Area under the ROC curve (AUC) for the combined cohort was 0.83 for all admissions and 0.72 for intensive care unit (ICU) admissions; AUCs at individual hospitals ranged from 0.72 to 0.85. The admission rate for a score of ,4 was 77%; for a score of ,5 the admission rate was 80%. Conclusions:, The ability of this EMS rule to predict the likelihood of hospital admission appears valid in this multicenter cohort. Further studies are needed to measure the impact and feasibility of using this rule to guide decision-making. [source] Prediction of respiratory insufficiency in Guillain-Barré syndromeANNALS OF NEUROLOGY, Issue 6 2010Christa Walgaard MD Objective Respiratory insufficiency is a frequent and serious complication of the Guillain-Barré syndrome (GBS). We aimed to develop a simple but accurate model to predict the chance of respiratory insufficiency in the acute stage of the disease based on clinical characteristics available at hospital admission. Methods Mechanical ventilation (MV) in the first week of admission was used as an indicator of acute stage respiratory insufficiency. Prospectively collected data from a derivation cohort of 397 GBS patients were used to identify predictors of MV. A multivariate logistic regression model was validated in a separate cohort of 191 GBS patients. Model performance criteria comprised discrimination (area under receiver operating curve [AUC]) and calibration (graphically). A scoring system for clinical practice was constructed from the regression coefficients of the model in the combined cohorts. Results In the derivation cohort, 22% needed MV in the first week of admission. Days between onset of weakness and admission, Medical Research Council sum score, and presence of facial and/or bulbar weakness were the main predictors of MV. The prognostic model had a good discriminative ability (AUC, 0.84). In the validation cohort, 14% needed MV in the first week of admission, and both calibration and discriminative ability of the model were good (AUC, 0.82). The scoring system ranged from 0 to 7, with corresponding chances of respiratory insufficiency from 1 to 91%. Interpretation This model accurately predicts development of respiratory insufficiency within 1 week in patients with GBS, using clinical characteristics available at admission. After further validation, the model may assist in clinical decision making, for example, on patient transfer to an intensive care unit. ANN NEUROL 2010;67:781,787 [source] | ||||||||||