Distribution and coexistence of myoclonus and dystonia as clinical predictors of SGCE mutation status: a pilot study

Introduction: Myoclonus-dystonia (M-D) is a young onset movement disorder typically involving myoclonus and dystonia of the upper body. A proportion of the cases are caused by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets of diagnostic criteria, identification of patients most likely to have an SGCE mutation remains difficult. Methods: Forty consecutive patients meeting pre-existing diagnostic clinical criteria for M-D underwent a standardized clinical examination (20 SGCE mutation positive and 20 negative). Each video was reviewed and systematically scored by two assessors blinded to mutation status. In addition, the presence and coexistence of myoclonus and dystonia was recorded in four body regions (neck, arms, legs, and trunk) at rest and with action. Results: Thirty-nine patients were included in the study (one case was excluded owing to insufficient video footage). Based on previously proposed diagnostic criteria, patients were subdivided into 24 "definite," 5 "probable," and 10 "possible" M-D. Motor symptom severity was higher in the SGCE mutation-negative group. Myoclonus and dystonia were most commonly observed in the neck and upper limbs of both groups. Truncal dystonia with action was significantly seen more in the mutation-negative group (p <0.05). Coexistence of myoclonus and dystonia in the same body part with action was more commonly seen in the mutation-negative cohort (p <0.05). Conclusion: Truncal action dystonia and coexistence of myoclonus and dystonia in the same body part with action might suggest the presence of an alternative mutation in patients with M-D

Chaperone use during intimate examinations in primary care: postal survey of family physicians

BACKGROUND: Physicians have long been advised to have a third party present during certain parts of a physical examination; however, little is known about the frequency of chaperone use for those specific intimate examinations regularly performed in primary care. We aimed to determine the frequency of chaperone use among family physicians across a variety of intimate physical examinations for both male and female patients, and also to identify the factors associated with chaperone use. METHODS: Questionnaires were mailed to a randomly selected sample of 500 Ontario members of the College of Family Physicians of Canada. Participants were asked about their use of chaperones when performing a variety of intimate examinations, namely female pelvic, breast, and rectal exams and male genital and rectal exams. RESULTS: 276 of 500 were returned (56%), of which 257 were useable. Chaperones were more commonly used with female patients than with males (t = 9.09 [df = 249], p < 0.001), with the female pelvic exam being the most likely of the five exams to be attended by a chaperone (53%). As well, male physicians were more likely to use chaperones for examination of female patients than were female physicians for the examination of male patients. Logistic regression analyses identified two independent factors – sex of physician and availability of a nurse – that were significantly associated with chaperone use. For female pelvic exam, male physicians were significantly more likely to report using a chaperone (adjusted Odds Ratio [OR] 40.62, 95% confidence interval [CI] 16.91–97.52). Likewise, having a nurse available also significantly increased the likelihood of a chaperone being used (adjusted OR 6.92, 95% CI 2.74–17.46). This pattern of results was consistent across the other four exams. Approximately two-thirds of respondents reported using nurses as chaperones, 15% cited the use of other office staff, and 10% relied on the presence of a family member. CONCLUSION: Clinical practice concerning the use of chaperones during intimate exams continues to be discordant with the recommendations of medical associations and medico-legal societies. Chaperones are used by only a minority of Ontario family physicians. Chaperone use is higher for examinations of female patients than of male patients and is highest for female pelvic exams. The availability of a nurse in the clinic to act as a chaperone is associated with more frequent use of chaperones

A Large Outbreak of Legionnaires’ Disease at a Flower Show, the Netherlands, 1999

In 1999, an outbreak of Legionnaires’ disease affected many visitors to a flower show in the Netherlands. To identify the source of the outbreak, we performed an environmental investigation, as well as a case-control study among visitors and a serologic cohort study among exhibitors to measure exposure to possible sources. Of 77,061 visitors, 188 became ill (133 confirmed and 55 probable cases), for an attack rate of 0.23% for visitors and 0.61% for exhibitors. Two whirlpool spas in halls 3 and 4 of the exhibition and a sprinkler in hall 8 were culture positive for Legionella pneumophila. One of three genotypes found in both whirlpool spas was identical to the isolates from 28 of 29 culture-positive patients. Persons who paused at the whirlpool spa in hall 3 were at increased risk for becoming ill. This study illustrates that whirlpool spas may be an important health hazard if disinfection fails

Exploring Decisions to Undertake a Marathon and Adherence Challenges in a Novice Runner With Parkinson

Evidence endorses the benefits of more vigorous exercise for people with Parkinson’s, particularly following diagnosis, yet is not clear which style is optimal. The authors share perspectives and decisions made as a physiotherapist (assisted by a sports and exercise science student) and a novice runner with Parkinson’s in his late 50s, respectively. The exercise goal chosen by the runner (the case report participant) to minimize the degenerative effects of the progressive condition was to complete a marathon. Methods: This coauthored report evaluates the participant’s progress utilizing physical fitness assessment data plus reflections on his training regime and notes from training diaries for the year before and after the marathon. Results: The participant received nutritional advice for weight management as exercise increased and physiotherapy for injuries from mounting activity level on Parkinsonian muscle tone. Fitness and function improved or were maintained (leg power, flexibility, timed functional walking, and balance). Most, however, returned to baseline within 6 months following the marathon as training intensity dropped. Conclusions: Physical function can be improved or maintained in individuals with neurodegenerative conditions with correct exercise and nutritional advice. The participant’s choice of running was based on recommendations for condition maintenance and not enjoyment, so adherence and completion of the marathon goal required professional, family, and technological support

Planet-compatible pathways for transitioning the chemical industry

Chemical products, such as plastics, solvents, and fertilizers, are essential for supporting modern lifestyles. Yet, producing, using, and disposing of chemicals creates adverse environmental impacts which threaten the industry’s license to operate. This study presents seven planet-compatible pathways toward 2050 employing demand-side and supply-side interventions with cumulative total investment costs of US$1.2–3.7 trillion. Resource efficiency and circularity interventions reduce global chemicals demand by 23 to 33% and are critical for mitigating risks associated with using fossil feedstocks and carbon capture and sequestration, and constraints on available biogenic and recyclate feedstocks. Replacing fossil feedstocks with biogenic/air-capture sources, shifting carbon destinations from the atmosphere to ground, and electrifying/decarbonizing energy supply for production technologies could enable net negative emissions of 0.5 GtCO2eq y−1 across non-ammonia chemicals, while still delivering essential chemical-based services to society

Development and Validation of a Real-Time PCR for Detection of Pathogenic Leptospira Species in Clinical Materials

Available serological diagnostics do not allow the confirmation of clinically suspected leptospirosis at the early acute phase of illness. Several conventional and real-time PCRs for the early diagnosis of leptospirosis have been described but these have been incompletely evaluated. We developed a SYBR Green-based real-time PCR targeting secY and validated it according to international guidelines. To determine the analytical specificity, DNA from 56 Leptospira strains belonging to pathogenic, non-pathogenic and intermediate Leptospira spp. as well as 46 other micro-organisms was included in this study. All the pathogenic Leptospira gave a positive reaction. We found no cross-reaction with saprophytic Leptospira and other micro-organisms, implying a high analytical specificity. The analytical sensitivity of the PCR was one copy per reaction from cultured homologous strain M 20 and 1.2 and 1.5 copy for heterologous strains 1342 K and Sarmin, respectively. In spiked serum & blood and kidney tissue the sensitivity was 10 and 20 copies for M 20, 15 and 30 copies for 1342 K and 30 and 50 copies for Sarmin. To determine the diagnostic sensitivity (DSe) and specificity (DSp), clinical blood samples from 26 laboratory-confirmed and 107 negative patients suspected of leptospirosis were enrolled as a prospective consecutive cohort. Based on culture as the gold standard, we found a DSe and DSp of 100% and 93%, respectively. All eight PCR positive samples that had a negative culture seroconverted later on, implying a higher actual DSp. When using culture and serology as the gold standard, the DSe was lower (89%) while the DSp was higher (100%). DSe was 100% in samples collected within the first – for treatment important - 4 days after onset of the illness. Reproducibility and repeatability of the assay, determined by blind testing kidney samples from 20 confirmed positive and 20 negative rodents both appeared 100%. In conclusion we have described for the first time the development of a robust SYBR Green real-time PCR for the detection of pathogenic Leptospira combined with a detailed assessment of its clinical accuracy, thus providing a method for the early diagnosis of leptospirosis with a well-defined satisfactory performance