Abstract Breast cancer is a common malignancy affecting women around the world. Approximately 10 percent of breast cancer patients have a hereditary form of the disease. Women with an inherited alteration in one of the BRCA1 and BRCA2 genes have an increased risk of developing these cancers at a young age (before menopause), and often have multiple family members with the disease. A total of 6 families with multiple cases of breast cancer were identified from southern Taiwan, and five of these families were found to have missense mutations in the BRCA1 or BRCA2 genes. One novel missense mutation of A5885C (Gln1886Pro), as well as new silent mutation of A4806G (Thr1526), in the exon 11 of the BRCA2 gene was found in one(A) family. The second(F) family was found to have three missense mutations of C2731T (Pro871Leu), A3232G (Glu1038Gly) and A3667G (Lys1183Arg) in the exon 11 of the BRCA1 gene. It is very unusual to have three previously reported BRCA1 mutations in the same family and these three mutations are located on the same chromosome. Two missense mutations of A3232G (Glu1038Gly) in exon 11 and A4956G (Ser1613Gly) in exon 16, as well as silent mutations of T2430C (Leu771) and T4427C (Ser1436), of the BRCA1 gene were found in the third(E) family. The missense mutation of A4956G (Ser1613Gly) in exon 16, as well as silent mutation of T4427C (Ser1436), of the BRCA1 are found in the fourth(C) and fifth(D) family. The sixth(B) families were found to possess only one silent mutation of T4035C (Val1269) in the BRCA2 gene. The amino acid changes might cause the protein structure unstable and these could explain the moderate role of BRCA mutations in the pathogenesis of breast cancer.

<p>Jämförande studie av likheter och skillnader mellan amerikanska och europeiska (främst tyska) stumma skräckfilmer, med tyngdpunkt på perioden 1913 – 1932 och med hänsyn till handling / manustyp, huvudperson / monstertyp, scenografi och teknik. Jämförande analys av kulturella, politiska och ekonomiska aspekter och dessas inverkan skräckfilmsproduktionen.</p>

Background: Cough Reflex Testing (CRT) has been shown to be useful in the challenging task of identifying silent aspiration (aspiration without a cough response). With the emergence of the routine clinical use of CRT in the acute stroke population, the following clinical conundrum often arises: Does passing a previously failed CRT mean the risk of silent aspiration has resolved? The purpose of this study was to evaluate the association between change in laryngeal cough threshold sensitivity and change in PAS (Penetration Aspiration Scale) score within the acute stage post-stroke. Methods: This was a prospective longitudinal pilot study of 20 acute stroke patients utilizing a Cough Reflex Threshold Test (CRTT) at 0.4M, 0.6M and 0.8M citric acid concentrations and Fiberoptic Endoscopic Evaluation of Swallowing (FEES). A cough response threshold was obtained from the CRTT and a PAS (penetration aspiration scale) score from FEES. Inclusion criteria required a PAS score of 4 or above on preliminary FEES or impaired CRT threshold as defined by weak or failed cough test result at 0.8M citric acid concentration. Both test methods were repeated every four days for 20 days or until the participant no longer aspirated/penetrated and had a normal result on CRTT on two consecutive assessment sessions. Agreement between changes in the two tests was evaluated using the Cohen’s Kappa statistic. Results: Eighteen of the twenty participants in this study aspirated on initial assessment, ten of which were silent. One participant continued to aspirate at study completion. On initial assessment eleven participants had a C2 response threshold at 0.4M citric acid concentration and three participants failed to reach threshold at 0.8M citric acid concentration. At study completion, 18 participants had a C2 response threshold at 0.4M citric acid concentration and one participant failed to reach threshold at 0.8M citric acid concentration. During the study, sixty-six re-assessments took place; there were fifteen incidences of improved cough response threshold on re-assessment and thirty-one incidences of improved PAS score. There was no significant agreement between improved laryngeal cough reflex threshold and improved PAS score during the acute stage Kappa = 0.0598 (p <.0.574), 95% CI (- 0.1496- 0.2692). Conclusion: Significant limitations of this study included small data set and potential flooring effect of the CRT. Due to the limitations of this study, no conclusions can be made as to the appropriateness of reinstating oral intake based on passing a previously failed CRT.

Detta arbete har undersökt hur man kan utgå ifrån Freuds Det kusliga tillsammans med olika vampyrstereotyper i syftet att skapa skrämmande skräckvarelser. För att undersöka detta togs tre olika vampyrinspirerade varelser fram. En som var baserad på Dracula, en baserad på kvinnliga vampyrer och en baserad på en mer monstruös, fladdermusliknande, vampyr. Dessa varelser placerades sedan i tre olika kontext där en var en miljö inspirerad av Silent Hill 2, en abstrakt odefinierad bakgrund och en enfärgad grå. Detta syftade att undersöka hur en kontext påverkar hur skrämmande varelsen upplevs. Undersökningsmetoden bestod av en webbenkät där resultatet pekade på att kontexten kring varelsen har betydelse samt att bekanta element och igenkänningsfaktor har betydelse för hur varelsen upplevs.

The purpose of this study was to investigate differences in oral and silent reading comprehension performance with passages of varying length through the use of both a questioning and a retelling format. In analyzing reading comprehension performance scores, answers were sought for the following questions: (1) What differences between oral and silent reading comprehension performance can be identified with passages of varying length when question responses are the measure of comprehension? (2) What differences between oral and silent reading comprehension performance can be identified with passages of varying length when retelling scores are the measure of comprehension? (3) In either oral or silent reading, to what extent is the information sought by means of traditional questions supplied by the reader during a retelling activity? To answer these questions, 80 sixth grade students from one public school located in a southwestern metropolitan area were randomly assigned to eight treatment groups. Subjects were of average ability as measured by a standardized test of silent reading achievement. A story with a sixth grade readability level was considered the long passage. The first portion of this same story was considered the short passage. All subjects completed an experimenter constructed instrument designed to reveal preferences for oral or silent reading in various situations. The 40 subjects randomly assigned to the question treatment groups read the assigned passage, either long or short, in the assigned mode of presentation, either oral or silent, and responded to questions asked orally by the experimenter. The 40 subjects randomly assigned to the retelling treatment groups also read the assigned passage in the assigned mode of presentation and retold the story to the experimenter. Open-ended questions were asked by the experimenter in order to elicit additional information. Following the retelling, the questions used with the question treatment groups were asked of the subjects in the retelling treatment groups. Access to the story was not allowed during retelling or questioning. Finally, subjects in the retelling groups were asked to react to various vocabulary items when again shown the story. Findings based on the statistical analysis of the data gathered in this study were as follows: (1) No significant differences were found between oral and silent reading comprehension of long and short passages when either questioning or retelling was the measure of reading comprehension performance. (2) Significant differences were found in performance between the questioning and retelling groups on questioning tasks when scores for the retelling groups were based only on information supplied during spontaneous retelling and open-ended probing. (3) Significant differences were found favoring a preference for silent over oral reading in various reading situations. (4) In the questioning condition, silent reading of passages was significantly faster than oral reading of passages. (5) No significant differences were found in the words per second reading rate for passages in the retelling condition. The findings of this study supported these conclusions: (1) Regardless of mode of comprehension assessment, students are able to perform equally well after reading orally or silently. (2) Varying the length of passages does not affect performance in reading comprehension tasks. (3) Different modes of comprehension assessment do not necessarily yield the same kinds of information about reading ability. (4) Students prefer silent reading as an activity but that preference is not reflected in superior silent reading performance. (5) Students, when aware of the mode of comprehension assessment to be used, may make differential adjustments in their rate of reading.

Methods for assessing small peripheral nerve fiber function objectively are limited. The cutaneous silent period (CuSP), a transient supression of electromyographic voluntary activity that follows painful stimuli, could serve as an objective functional measure of the A delta fibers. The aim of this study was to evaluate function of small diameter A delta nerve fibers using the CuSP in normals and in patients with both focal (carpal tunnel syndrome - CTS) and generalised (polyneuropathies - PNP) peripheral nerve injuries. The objectives of the study were the following: 1. To determine the CuSP normal values by age, gender, side, height and weight in healthy controls. 2. To study the topography and extension of the CuSP by changing recording and stimulating sites in healthy controls. 3. To evaluate the CuSP in patients with CTS of different severity and to compare these results with those of healthy controls. 4. To estimate the CuSP onset latency and duration in relation with median nerve evoked compound muscle action potential amplitude, distal latency and conduction velocity in patients with CTS. 5. To evaluate the CuSP in patients with PNP of different types and to compare these results with those of healthy controls. 6. To estimate the CuSP onset latency and duration in relation with median nerve evoked compound muscle action potential amplitude, distal latency and conduction velocity in patients with PNP. We investigated the CuSP of the upper and lower limbs of 50 normal... [to full text]

In the early years of the twentieth century, the unique new medium of motion pictures was the focus of significant theorization and experimentation at the fringes of the American advertising industry. Alongside the growth of the nickelodeon, and the multiple shifts in the American cinema's business model in the 'transitional era,' various individuals at the margins of the advertising industry attempted, and most often failed, to integrate direct consumer-goods advertising regularly into motion picture theaters. Via techniques as diverse as the glass slide, the commercial trailer, and the advertising wall-clock, cinema patrons of the 1910s witnessed various attempts by merchants and manufacturers to intrude upon their attention in the cinema space. Through research in the trade presses of the cinema, advertising, and various consumer-goods industries, along with archival ephemera from the advertising companies themselves, this dissertation explores these various on and off-screen tactics for direct advertising attempted in silent cinemas, and their eventual minimization in the American cinema experience. Despite the appeal of the new, popular visual medium of cinema to advertisers, concerns over ticket prices, advertising circulation, audience irritation, and the potential for theatrical 'suicide-by-advertising,' resulted, over a mere fifteen years, in the near abandonment of the cinema as an advertising medium. As a transitional medium between the 19th century forms of print and billboarding, and 20th century broadcasting, the silent cinema was an important element in the development of modern advertising theories.

One of the most elusive challenges in the diagnosis and treatment of dysphagia is the reliable identification of silent aspiration (aspiration in the absence of cough). The citric acid inhalation cough challenge offers potential for aiding in identification of silent aspiration; however clinical application of this technique is currently problematic due to an absence of normative data. Therefore, this study aimed to establish a normative data set for the Citric- Acid Inhalation Cough Challenge, as administered with facemask method. 80 healthy subjects will participate in this study, constituting 2 age groups: above and below 60 years, with equal gender representation. On 3 separate trials, they will be asked to passively inhale, via a facemask, nebulised citric acid of concentrations ranging from 08M to 2.6M with placebo interspersed. ‘Natural cough thresholds’ (NCT) and ‘Suppressed Cough Thresholds’ (SCT) will be reached when subjects cough on at least 2 out of 3 trials. The majority (92.5%) of participants reached Natural Cough Threshold by 0.8M, with 68% demonstrating Suppressed Cough Threshold also at this concentration. There were no significant differences found between males and females (p<0.05) for either NCT (p=0.9885) or SCT (p=0.44). Whilst no difference was found between youngers and elders for NCT (p=0.7254), there was a significant difference for SCT (p=0.018), with youngers better able to suppress cough. Over 90% of healthy people were found to elicit cough at 0.8M, inferring that this level would be an adequate guide for use by clinicians testing for presence/absence of cough.

Silent aspiration is associated with pneumonia and mortality, and is poorly identified by traditional clinical swallowing evaluation (CSE). Currently, there is no reliable test for detecting silent aspiration during CSE. There is, however, increasing evidence for the validity of cough reflex testing (CRT) for identifying silent aspiration. This test has the potential to significantly improve clinical assessment of dysphagia. The aim of this research programme was to further investigate the validity, reliability and clinical utility of CRT for identifying patients at risk of silently aspirating. Several aspects of CRT were explored during this research programme. Two correlational studies were conducted to validate CRT for identifying silent aspiration against videofluoroscopic swallowing study (VFSS) and flexible endoscopic evaluation of swallowing (FEES). Cough reflex threshold testing was completed on 181 patients using inhaled, nebulised citric acid. Within one hour, 80 patients underwent VFSS and 101 patients underwent FEES. All tests were recorded and analysed by two researchers blind to the result of the alternate test. Significant associations between CRT result and cough response to aspiration on VFSS (p = .003) and FEES (p < .001) were identified. Sensitivity and specificity were optimised at 0.6mol/L in patients undergoing VFSS (71%, 60% respectively) and at 0.4mol/L in patients undergoing FEES (69%, 71% respectively). A concentration of 0.8mol/L had the highest odds ratio (OR) for detecting silent aspiration (8 based on VFSS, 7 based on FEES). Coughing on lower concentrations of citric acid (0.4mol/L compared with 1.2mol/L) was a better predictive measure of silent aspiration. Diminished cough strength has also been associated with aspiration and increased risk of pneumonia. Reflexive cough is our primary defensive mechanism against aspiration and a measure of reflexive cough strength therefore holds greater relevance than one of voluntary cough strength. Despite common use and clinical applicability, the reliability of subjective cough judgements has received little attention. The inter- and intra-rater reliability of subjective judgements of cough in patients following inhalation of citric acid was assessed. Forty-five speech-language therapists (SLTs) were recruited to the first study. Of these, 11 SLTs were currently using CRT in their clinical practice (experienced raters) and 34 SLTs reported no experience with CRT (inexperienced raters). Participants provided a rating of strong, weak or absent to ten video segments of cough responses elicited by inhalation of nebulised citric acid. The same video segments presented in a different sequence were re- evaluated by the same clinicians following a 15-minute break. Inter-rater reliability for experienced raters was calculated with a Fleiss’ generalised kappa of .49; intra-rater reliability was higher with a kappa of .70. Inexperienced raters showed similar reliability with kappa values for inter-rater and intra-rater reliability of .36 and .62, respectively. SLTs demonstrated only fair to moderate reliability in subjectively judging a patient’s cough response to citric acid. Experience in making cough judgements did not improve reliability significantly. In a second study, specific training in cough physiology and cough judgement was provided to 58 trained SLTs. Inter-rater reliability of subjective judgements of cough in patients following inhalation of citric acid was assessed. Participants provided a rating of present or absent, and if present then a rating of strong or weak, to ten video segments of cough responses. Inter-rater reliability for cough presence was calculated with a Fleiss’ generalised kappa of .71 and cough strength was calculated at .61. Years of clinical experience did not improve inter-rater reliability significantly. Experience in using CRT did improve inter-rater reliability. Further validity and reliability research would be beneficial for guiding clinical guidelines and training programmes. By identifying patients at risk of silent aspiration, more informed management decisions can be made that consequently lead to a reduction in preventable secondary complications such as pneumonia. The clinical utility of CRT for reducing pneumonia in acute stroke patients was assessed through a randomised, controlled trial. Three hundred and eleven patients referred for swallowing evaluation were assigned to either 1) a control group receiving standard evaluation or 2) an experimental group receiving standard evaluation with CRT. Participants in the experimental group were administered nebulised citric acid with test results contributing to clinical decisions. Outcomes for both groups were measured by pneumonia rates at three months post stroke and other clinical indices of swallowing management. Analysis of the data identified no significant differences between groups in pneumonia rate (p = .38) or mortality (p = .15). Results of CRT were shown to influence diet recommendations (p < .0001) and referrals for instrumental assessment (p <.0001). Despite differences in clinical management between groups, the end goal of reducing pneumonia in post stroke dysphagia was not achieved. Through this research, the characteristics and outcomes associated with dysphagia secondary to stroke in New Zealand were identified. Baseline characteristics of 311 patients with dysphagia following acute stroke were collected during their hospital stay and outcomes were measured at three months post stroke. Mortality rates were 16% and pneumonia rates 27%. Mean length of stay was 24 days and only 45% of patients were in their own home at three months post stroke. Pneumonia was significantly associated with mortality and increased length of stay. Only 13% of patients received referral for instrumental assessment of swallowing. These data are discussed in reference to the National Acute Stroke Services Audit 2009 and internationally published data. The outcomes for stroke patients with dysphagia in New Zealand are poor with a high risk of pneumonia and long hospital stays when compared internationally. In summary, this research programme has contributed to our understanding of the use of CRT in patients with dysphagia. The addition of a measure of reflexive cough strength may add to clinical assessment but specific training is required to reach adequate reliability. CRT results are significantly associated with aspiration response on instrumental assessment and lower concentrations of citric acid provide a better predictive measure of silent aspiration. CRT can be standardised and therefore is not as susceptible to interpretative variance that plagues much of CSE. Sensitivity and specificity values using this CRT methodology are adequate for CRT to be incorporated into clinical protocols. Inclusion of CRT alone was not shown to be sufficient to change clinical outcomes however integration of CRT into clinical pathways may prove more successful. Further research evaluating the addition of CRT to a comprehensive CSE would add greatly to the field of dysphagia assessment.

No description available.