Recently, several reports have been published that showed a higher incidence of assisted reproductive technologies (ART) in patients with Beckwith–Wiedemann syndrome compared with the general population, and in most of these patients, aberrant methylation imprints of KvDMR1 have been found. This has led to the concern that ART might increase the incidence of imprinting syndromes such as Beckwith–Wiedemann syndrome. Not much is known on environmental or genetic factors that may interfere with the processes of imprint maintenance or resetting. A methylation analysis of KvDMR1 was performed in human oocytes at different stages of nuclear maturity and in sperm cells. The results indicate that the maternal methylation imprints were already established at the germinal vesicle stage, whereas all sperm cells were unmethylated, thereby showing that the KvDMR1 carries a germline methylation imprint. For one of the oocytes analysed, an unmethylated pattern was found, which highlights the need for further molecular studies that consider the safety of ART.,Computed tomography fails to ascertain, or exclude, the presence of intracranial haemorrhage in a considerable number of cases, especially in subarachnoid haemorrhage and haemorrhagic infarcts. A number of other methods, including cerebrospinal fluid spectrophotometry and cytology have, therefore, been tested to define their diagnostic efficacy in 25 cases of confirmed intracranial haemorrhage and in 25 instances of blood-stained cerebrospinal fluid due to traumatic puncture. The combination of spectrophotometry and cytology proved to have a high diagnostic reliability. On the basis of these results a routine scheme of investigation is proposed.,Objective In this study, the presence and severity of external auditory canal exostoses (EACE) in a group of white water kayakers related to the duration and intensity of kayaking and the number of ear infections reported were identified. Design A community-based volunteer cross-sectional study was completed with 92 kayakers (69 men, 23 women; mean (SD) age 29.3 (8.72) years) and 65 control volunteers (37 men, 28 women; mean (SD) age 36.9 (14.9) years). After exclusions, 269 individual ears were examined (154 kayakers and 115 controls). Participants completed a questionnaire and underwent otoscopic examination. Main outcome measures were the presence and severity of EACE, the duration and frequency of kayaking and self-reported ear infections. Exclusion criteria included other cold-water exposure, known ear pathology or poor visualisation of the auditory canal. Results The findings demonstrated that 69.5% of kayaker ears and 1.7% of the control group were found to have EACE. Severity of EACE was significantly associated with the duration (p<0.01) and frequency (p<0.05) of kayaking with 90.6% of kayakers that had participated for more than 10 years having evidence of EACE. A significant relationship also existed between the number of self-reported ear infections and the severity of EACE (p<0.01). Conclusion There is a positive relationship between the duration and frequency of white water kayaking and the presence and severity of EACE and associated ear infections.,The expression of amylase in various histological types of thyroid cancer was studied by an immunohistochemical technique, using a polyclonal antiamylase antiserum and two monoclonal antibodies specific for salivary and pancreatic-type amylases, respectively. Amylase was expressed in 21 of 24 (88%) thyroid cancers by polyclonal antiserum analysis. Analysis by monoclonal antibodies, however, showed that only 13 (54%) cases and three (13%) cases contained salivary-type and pancreatic-type amylases, respectively. Moreover, immunoreactivity for pancreatic-type amylase was detected only in medullary carcinoma; other histological types were positive for salivary-type amylase. These results show that thyroid cancer frequently expresses amylase, and suggest that the differences between amylase isoenzymes in thyroid cancer may correlate with those found between cellular origin of tumour.
Drug and Therapeutics Bulletin (DTB) has moved home. At the end of November 2006, ownership of DTB was transferred from Which? to the BMJ Group. Here, in the first article published under the new banner, we explain the move and its implications.,Fifty-one patients with amaurosis fugax were followed for a mean of 4.9 years from their first attack. Females predominated under the age of 50 years in contrast to men who presented in the older age group. Minor permanent visual sequelae occurred in only three patients, but cerebral vascular symptoms were present at some time in just under half the group. A range of abnormalities was identified on cerebral angiography and some of these correlated with certain clinical findings. Twenty patients were treated by surgery and permanent relief of significant improvement in symptoms occurred in 14. A group of patients who were at greater risk of cerebral vascular complications following angiography and surgery was identified. It is concluded that careful patient selection is necessary before surgery is recommended but that in a significant number of cases with relatively focal atheroma confined to one proximal internal carotid artery an excellent long term result following surgery may be expected.,Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreased mortality and morbidity which allowed the emergence of familial cases. Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment. While all Mendelian modes of inheritance have been described in syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. The tyrosine kinase receptor RET is the major gene with both rare coding sequence mutations and/or a frequent variant located in an enhancer element predisposing to the disease. Hitherto, 10 genes and five loci have been found to be involved in HSCR development.
The sensitivity of the different parameters (absolute latency, interwave latency, latency asymmetry, amplitude) of both cervical and cerebral responses evoked by stimulation of the median nerve at the wrist was assessed in patients with multiple sclerosis by discriminant analysis. The peak latency of N13 or N20 SEP components or both was found to be more sensitive than their amplitude, provided that a preliminary covariation with the height of the subjects was performed. The measurement of latency asymmetry between the two sides increased the test's sensitivity, while amplitude asymmetry turned out to be of little diagnostic value. A linear discriminant function with four variates (that is mean amplitude, mean latency, latency asymmetry and height of the subject) was computed to summarise the information provided by the different parameters to give a rapid and exact method for the assessment of SEP abnormalities in multiple sclerosis patients.,Quantifying the exposure of construction painters to mixed organic solvents is difficult in the face of a lack of industrial hygiene data, the heterogeneity of the solvents used, and the variability in work practices which influences the amount of solvents to which a worker is actually exposed. This report describes an attempt to derive an estimate of airborne solvent exposure using questionnaire responses in a population of construction and maintenance painters. This exposure index (EI) is a weighted average of the total number of gallons used a year minus the fraction which would be absorbed by a respirator, where the weights are based on the method of application (spraying, rolling, brushing) and the presence of ventilation (per cent time inside v outside). An analysis performed to determine the sensitivity of the EI to variations in the values chosen for several parameters showed that the index is relatively insensitive to the underlying assumptions that we have used. One component of the EI (self report of hours worked) correlated well with union payroll records. The EI appears to provide a useful relative (not absolute) estimate of airborne exposure to organic solvent mixtures which may be used as a dose surrogate in epidemiological investigations.,AimTo examine the contribution of programme year and demographic factors to medical students’ perceptions of evidence-based classification categories of professional misconduct.MethodsStudents at an Irish medical school were administered a cross-sectional survey comprising 31 vignettes of professional misconduct, which mapped onto a 12-category classification system. Students scored each item using a 5-point Likert scale, where 1 represents the least severe form of misconduct and 5 the most severe.ResultsOf the 1012 eligible respondents, 561 students completed the survey, providing a response rate of 55%. Items pertaining to disclosure of conflict of interest were ranked as the least severe examples of professional misconduct, and this perception was highest among finalyear students. While ratings of severity declined for items related to ‘inappropriate conduct not in relation to patient’ and ‘inappropriate use of social media’ between years 1 and 3, ratings for both categories increased again among clinical cycle (fourth and final year) students.ConclusionsIncreased clinical exposure during years 4 and 5 of the undergraduate programme was associated with better recognition of the importance of selected professional domains. Disclosure of conflict of interest is identified as an area of medical professionalism that requires greater emphasis for students who are at the point of transition from student to doctor.
The Finnish Register of Congenital Malformations was used in a multivariate analysis to explore the associations between maternal occupation in industry and children born with central nervous system (CNS) or musculoskeletal or oral cleft malformations. Possible confounding factors were selected in preliminary screening of risk indicators for malformations. These factors included characteristics of the mother, the child, and the family; maternal illnesses; an maternal medication at the time of pregnancy. Tobacco smoking was a confounding factor for all type of malformations; number of children born to the mother, maternal age, malformations in the family, number of rooms occupied by the family, sex of the child, threatened abortion, and continuous medication of the mother during the first trimester confounded the association for certain type of malformations. After adjusting for confounding factors, maternal occupation in industrial trades significantly correlated with CNS, oral cleft, and musculoskeletal malformation in the offspring. Maternal occupation in industry and construction only was significantly associated with CNS malformations in the offspring but the associations with oral cleft and musculoskeletal malformations were not significant.,ObjectivesWe created Physician Navigators in our ED to help improve emergency physician (EP) productivity. We aimed to quantify the effect of Physician Navigators on measures of EP productivity: patient seen per hour (Pt/hr), and turn-around time (TAT) to discharge. Secondary objectives included examining their impact on measures of ED throughput for non-resuscitative patients: ED length of stay (LOS), door-to-physician time and left-without-being-seen rates (LWBS).MethodsIn this retrospective study, 6845 clinical shifts worked by 20 EPs at a community ED in Newmarket, Canada from 1 January 2012 to 31 March 2015 were evaluated. Using a clustered design, we compared productivity measures between shifts with and without Physician Navigators, by physician. We used a linear mixed model to examine mean changes in Pt/hr and TAT to discharge for EPs who employed Physician Navigators. For secondary objectives, autoregressive modelling was performed to compare ED throughput metrics before and after the implementation of Physician Navigators for non-resuscitative patients.ResultsPatient volumes increased by 20 patients per day (p<0.001). Mean Pt/hr increased by 1.07 patients per hour (0.98 to 1.16, p<0.001). The mean TAT to discharge decreased by 10.6 min (−13.2 to −8.0, p<0.001). After implementation of the Physician Navigator programme, overall mean LOS for non-resuscitative patients decreased by 2.6 min (p=0.007), and mean door-to-physician time decreased by 7.4 min (p<0.001). LBWS rates decreased from 1.13% to 0.63% of daily patient volume (p<0.001).ConclusionDespite an ED volume increase, the use of a Physician Navigator was associated with significant improvements in EP productivity, and significant reductions in ED throughput times.
Context The apparent inconsistency between the widespread use of quality improvement collaboratives and the available evidence heightens the importance of thoroughly understanding the relative strength of the approach. More insight into factors influencing outcome would mean future collaboratives could be tailored in ways designed to increase their chances of success. This review describes potential determinants of team success and how they relate to effectiveness. Method We searched Medline, CINAHL, Embase, Cochrane, and PsycINFO databases from January 1995 to June 2006. The 1995–2006 search was updated in June 2009. Reference lists of included papers were reviewed to identify additional papers. We included papers that were written in English, contained data about the effectiveness of collaboratives, had a healthcare setting, met our definition for collaborative, and quantitatively assessed a relationship between any determinant and any effect parameter. Findings Of 1367 abstracts identified, 23 papers (reporting on 26 collaboratives) provided information on potential determinants and their relationship with effectiveness. We categorised potential determinants of success using the definition for collaboratives as a template. Numerous potential determinants were tested, but only a few related to empirical effectiveness. Some aspects of teamwork and participation in specific collaborative activities enhanced short-term success. If teams remained intact and continued to gather data, chances of long-term success were higher. There is no empirical evidence of positive effects of leadership support, time and resources. Conclusions These outcomes provide guidance to organisers, participants and researchers of collaboratives. To advance knowledge in this area we propose a more systematic exploration of potential determinants by applying theory and practice-based knowledge and by performing methodologically sound studies that clearly set out to test such determinants.,BackgroundPreventing traffic crashes reduces crash costs paid by employers and employees. The related savings filter through the economy, impacting its performance. This study is the first to measure the impact of traffic crash reduction on a national economy. It focuses on impaired driving crashes.MethodsWe analysed the impact of the almost 50% alcohol-involved driving crash rate reduction from 1984–1986 to 2010 and the impact if such crashes in 2010 had not occurred. The analysis entered published estimates of costs that employers, consumers and governments paid because of US impaired-driving crashes as production costs and demand changes in Rutgers University's input–output model of the US economy. For example, reducing medical costs paid by employers lowers the cost of labour inputs to production while reducing vehicle repairs raises demand for other goods. Running the model at current and alternative crash rates revealed the impacts of crash reductions on economic output, gross domestic product (GDP), national income and employment.ResultsAlcohol-involved crash reductions since 1984–1986 increased economic output in 2010 by an estimated $20 billion, raised GDP by $10 billion, increased US income by $6.5 billion, and created 215 000 jobs. GDP gains from alcohol-involved crash reduction contributed 5% of the $200 million compounded average annual growth in US GDP from 1985 to 2013. Eliminating remaining alcohol-involved crashes would result in similar economic gains.ConclusionsAlcohol-involved crashes drag down the US economy. On average, each of the 25.5 billion miles Americans drove impaired in 2010 reduced economic output by $0.80. Those losses are preventable.,Experience after 18 months' work with the SMA-4 system of multiple analysis for routine haematology is described, as well as the modifications to the machine which have been made for smoother operation.,The size of the pericryptal fibroblast sheath (PCFS) population was determined by scoring serial sections. There are 38 and 124 PCFS cells per murine small intestinal and colonic crypt, respectively. The cells of the PCFS are slightly weighted towards the lower two-thirds of the crypt in their distribution. The ratio of epithelial cells to PCFS cells is approximately 6.5:1. The in vivo cell kinetics were analysed under control and stressed (fasted-refed) conditions. The control labelling index increases from 8.9% in the small intestine and 7.0% in the colon to peaks 49% and 113% respectively above these values 24 hours after 3HTdR administration. Labelling is observed at all crypt levels equally, and no evidence of vertical migration of labelled PCFS cells was found. Colonic epithelial and PCFS cells show a similar pattern of response to feeding after a fast of 72 hours with respect to time, but a different distribution of response in terms of crypt position.,Background Electronic nicotine delivery systems (ENDS), also referred to as electronic cigarettes or e-cigarettes, were introduced into the US market in 2007. Despite concerns regarding the long-term health impact of this product, there is little known about awareness and use of ENDS among adults in the USA. Methods A consumer-based mail-in survey (ConsumerStyles) was completed by 10 587 adults (≥18 years) in 2009 and 10 328 adults in 2010. Data from these surveys were used to monitor awareness, ever use and past month use of ENDS from 2009 to 2010 and to assess demographic characteristics and tobacco use of ENDS users. Results In this US sample, awareness of ENDS doubled from 16.4% in 2009 to 32.2% in 2010 and ever use more than quadrupled from 2009 (0.6%) to 2010 (2.7%). Ever use of ENDS was most common among women and those with lower education, although these were not the groups who had heard of ENDS most often. Current smokers and tobacco users were most likely to try ENDS. However, current smokers who had tried ENDS did not say they planned to quit smoking more often than smokers who had never tried them. Conclusions Given the large increase in awareness and ever use of ENDS during this 1-year period and the unknown impact of ENDS use on cigarette smoking behaviours and long-term health, continued monitoring of these products is needed.,Two questionnaires were given to the participants of the Danish national marathon championship to obtain information on health, training habits, previous injuries and the medical problems sustained during and after the competition. All 60 participants replied to both questionnaires. The elite runner is training between 90-150 km per week, using one daily training session. He is generally careful about stretching and warming up and down. Forty-three per cent of runners sustained injuries in the last year that prevented them from training, but only 3% needed to stay off work. The most common reasons for not completing the race were exhaustion and injuries to the lower extremities. Sixty-one per cent of the runners who did not drink at all refreshment stations dropped out, whereas only 27% of those who did dropped out. There was no difference in relation to results or medical problems between the group who used a special diet before the run and those who did not. The major medical problems were gastrointestinal disturbances, skin lesions and pain or cramps in the lower extremities. No serious injuries were reported.