This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development.
A 32-question survey was electronically distributed to American Board of ...Medical Genetics and Genomics board-certified/eligible diplomates in 2019. We conducted a descriptive analysis of responses from practicing clinical geneticists.
Of the 491 clinical geneticists responding to the survey, a majority were female (59%) and White (79%), worked in academic medical centers (73%), and many engaged in telemedicine (33%). Clinical geneticists reported an average of 13 new and 10 follow-up patient visits per week. The average work week was 50 hours and the majority (58%) worked over half-time in clinical duties. Providers indicated that 39% of new emergency patients wait 3 days or more, and 39% of nonemergency patients wait over 3 months to be seen. Respondents were geographically concentrated in metropolitan areas and many reported unfilled clinical geneticist job vacancies at their institution of more than 3 years.
With the rapid expansion of genomic medicine in the past decade, there is still a gap between genetics services needed and workforce capacity. A concerted effort is required to increase the number of clinical geneticists and enhance interdisciplinary teamwork to meet increasing patient needs.
Riluzole has been approved for treatment of patients with amyotrophic lateral sclerosis in most countries. Questions persist about its clinical utility because of high cost and modest efficacy.
To ...examine the efficacy of riluzole in prolonging survival, and in delaying the use of surrogates (tracheostomy and mechanical ventilation) to sustain survival.
We searched the Cochrane Neuromuscular Disease Group Register for randomized trials in December 2004 and made enquiries of authors of trials, Aventis (manufacturer of riluzole) and other experts in the field. We searched MEDLINE (January 1966 to August 25 2006) and EMBASE (January 1980 to September 30th 2006).
Types of studies: randomized trials.
adults with a diagnosis of amyotrophic lateral sclerosis. Types of interventions: treatment with riluzole or placebo. Types of outcome measures: Primary: pooled hazard ratio of tracheostomy-free survival over all time points with riluzole 100 mg. Secondary: per cent mortality with riluzole 50, 100 and 200 mg; neurologic function, muscle strength and adverse events.
We identified four eligible randomized trials.
The four trials examining tracheostomy-free survival included a total of 974 riluzole treated patients and 503 placebo treated patients. The methodological quality was acceptable and three trials were easily comparable, although one trial included older patients in more advanced stages of amyotrophic lateral sclerosis and one had multiple primary endpoints. Riluzole 100 mg per day provided a benefit for the homogeneous group of patients in the first two trials (P value = 0.042, hazard ratio 0.80, 95% confidence interval 0.64 to 0.99) and there was no evidence of heterogeneity (P value = 0.33). When the third trial (which included older and more seriously affected patients) was added, there was evidence of heterogeneity (P value < 0.0001) and the random effects model, which takes this into account, resulted in the overall treatment effect estimate falling just short of significance (P value = 0.056, hazard ratio 0.84, 95% confidence interval 0.70 to 1.01). This represented a 9% gain in the probability of surviving one year (57% in the placebo and 66% in the riluzole group). There was a small beneficial effect on both bulbar and limb function, but not on muscle strength. A threefold increase in serum alanine transferase was more frequent in riluzole treated patients than controls (weighted mean difference 2.62, 95% confidence interval 1.59 to 4.31).
Riluzole 100 mg daily is reasonably safe and probably prolongs median survival by about two to three months in patients with amyotrophic lateral sclerosis.
Abstract Background Out-of-hospital cardiac arrest (OHCA) is a leading cause of mortality and serious neurological morbidity in Europe. Recent studies have demonstrated the adverse physiological ...consequences of poor resuscitation technique and have shown that quality of cardiopulmonary resuscitation (CPR) is a critical determinant of outcome from OHCA. Telemetry of the defibrillator transthoracic impedance (TTI) trace can objectively measure quality of pre-hospital resuscitation. This study aims to analyse the impact of targeted resuscitation feedback and training on quality of pre-hospital resuscitation. Methods Prospective, single centre, cohort study over 13 months (1st December 2009–31st December 2010). Baseline pre-hospital resuscitation data was gathered over a 3-month period. Modems ( n = 40) were fitted to defibrillators on ambulance vehicles. Following a resuscitation attempt, the event was sent via telemetry and the TTI trace analysed. Outcome measures were time spent performing chest compressions, compression rate, the interval required to deliver a defibrillator shock and use of automatic or manual cardiac rhythm analysis. Targeted resuscitation classes were introduced and all ambulance crews received feedback following a resuscitation attempt. Pre-hospital resuscitation quality pre and post intervention were compared. Results 111 resuscitation traces were analysed. Mean hands-on-chest time improved significantly following feedback and targeted resuscitation training (73.0% vs 79.3%, p = 0.007). There was no significant change in compression rate during the study period. There was a significant reduction in median time-to-shock interval from 20.25 s (IQR 15.50–25.50 s) to 13.45 s (IQR 2.25–22.00 s) ( p = 0.006). Automatic rhythm recognition fell from 50% to 28.6% ( p = 0.03) following intervention. Conclusion Telemetry and analysis of the TTI trace following OHCA allows objective evaluation of the quality of pre-hospital resuscitation. Targeted resuscitation training and ambulance feedback improves the quality of pre-hospital resuscitation. Further studies are required to establish possible survival benefit from this technique.
To describe the efficacy of intravitreal aflibercept on 12-month visual and anatomical outcomes in patients with neovascular age-related macular degeneration (AMD) recalcitrant to prior monthly ...intravitreal bevacizumab or ranibizumab.
Non-comparative case series of 21 eyes of 21 AMD patients with evidence of persistent exudation (intraretinal fluid/cysts, or subretinal fluid (SRF), or both) on spectral domain OCT despite ≥6 prior intravitreal 0.5 mg ranibizumab or 1.25 mg bevacizumab (mean 29.8±17.1 injections) over 31.6±17.4 months who were transitioned to aflibercept.
At baseline, best-corrected visual acuity (BCVA) was 0.42±0.28 logarithm of minimum-angle of resolution (logMAR), central foveal thickness (CFT) was 329.38±102.67 μm and macular volume (MV) was 7.71±1.32 mm(3). After 12 months of aflibercept (mean 10.2±1.2 injections), BCVA was 0.40±0.28 logMAR (P=0.5), CFT decreased to 292.71±91.35 μm (P=0.038) and MV improved to 7.33±1.27 mm(3) (P=0.003). In a subset of 15 eyes with a persistent fibrovascular or serous pigment epithelial detachment (PED), mean baseline PED greatest basal diameter (GBD) was 2350.9±1067.6 μm and mean maximal height (MH) was 288.7±175.9 μm. At 12 months, GBD improved to 1896.3±782.3 μm (P=0.028), while MH decreased to 248.27±146.2 μm (P=0.002).
In patients with recalcitrant AMD, aflibercept led to anatomic improvement at 12 months, reduction in proportion of eyes with SRF and reduction in PED, while preserving visual acuity.
Euryhaline and freshwater elasmobranchs are considered amongst the most threatened groups of aquatic animals. The speartooth shark Glyphis glyphis has a distribution restricted to estuaries and ...rivers in northern Australia and Papua New Guinea. Due to this restricted range and threats from fisheries and habitat degradation, the species is currently listed as Endangered on the IUCN Red List. To inform and direct conservation management actions, we investigated the distribution and habitat utilisation of G. glyphis in the Wenlock River system, Queensland, Australia. Using acoustic transmitters and a network of fixed underwater acoustic hydrophones, the movements of 40 sharks (63 to 131.5 cm total length) were tracked over 22 mo, throughout 137 km of river and adjacent coastal embayment. Three broad zones were utilised by tagged G. glyphis, comprising a lower (0 to 23 km), mid (20 to 50 km) and upper (35 to 68 km upstream) estuary zone. Individual-based occupancy of these zones changed with seasonal changes in freshwater inflow. These results provide new insight into the habitat requirements of G. glyphis, the importance of natural eco-hydrological flows for the species, and the significance of the Wenlock River as a G. glyphis natal area.
Clostridium difficile is commonly associated with a spectrum of disease in humans referred to as C. difficile-associated disease (CDAD) and use of antimicrobials is considered a risk factor for ...development of disease in humans. C. difficile can also inhabit healthy food animals and transmission to humans is possible. As a result of the complexity and cost of testing, C. difficile is rarely tested for antimicrobial susceptibility. A total of 376 C. difficile strains (94 each from swine and dairy feces, and 188 from beef cattle feces) were isolated from healthy food animals on farms during studies conducted by the National Animal Health Monitoring System. Using the Etest (AB Biodisk, Solna, Sweden), samples were tested for susceptibility to nine antimicrobials implicated as risk factors for CDAD (linezolid, amoxicillin-clavulanic acid, ampicillin, clindamycin, erythromycin, levofloxacin, metronidazole, rifampicin, and vancomycin). Vancomycin was active against all isolates of C. difficile (MIC90=3.0μg/ml) while almost all isolates (n=369; 98.1%) were resistant to levofloxacin. With the exception of vancomycin, resistance varied by animal species as follows: linezolid (8.5% resistance among swine versus 2.1 and 1.1% resistance among dairy and beef, respectively), clindamycin (56.4% resistance among swine versus 80% and 90.9% resistance among dairy and beef, respectively), and rifampicin (2.1% and 0% resistance among swine and dairy cattle isolates, respectively versus 14.3% resistance among beef isolates). Regardless of species, multiple drug resistance was observed most often to combinations of clindamycin and levofloxacin (n=195; 51.9%) and ampicillin, clindamycin and levofloxacin (n=41; 10.9%). The reason for the variability of resistance between animal species is unknown and requires further research.
•Clostridium difficile strains were tested to nine antimicrobials.•Vancomycin was active against all isolates of C. difficile.•The reason for the variability of resistance between animal species is unknown.
In this article we discuss research bearing on the traditional use of the IQ-achievement discrepancy to define specific reading disability. We initially review the evidence presented by Rutter and ...Yule (1975) in support of this practice, and then discuss results from subsequent studies that have questioned the reliability of their findings. We also discuss results from more recent studies demonstrating that the IQ-achievement discrepancy does not reliably distinguish poor from normal readers, whereas language-based measures do reliably distinguish these groups. We highlight results from a study we recently completed, in which it was found that IQ scores did not differentiate between poor readers who were found to be readily remediated and poor readers who were difficult to remediate. In view of the convergent evidence against the use of IQ scores to define specific reading disability, we suggest that the IQ-achievement discrepancy definition of this disorder be discarded.
Abstract Introduction Out-of-hospital cardiac arrest (OHCA) is a significant cause of death and severe neurological disability. The only post-return of spontaneous circulation (ROSC) therapy shown to ...increase survival is mild therapeutic hypothermia (MTH). The relationship between esophageal temperature post OHCA and outcome is still poorly defined. Methods Prospective observational study of all OHCA patients admitted to a single centre for a 14-month period (1/08/2008 to 31/09/2009). Esophageal temperature was measured in the Emergency Department and Intensive Care Unit (ICU). Selected patients had pre-hospital temperature monitoring. Time taken to reach target temperature after ROSC was recorded, together with time to admission to the Emergency Department and ICU. Results 164 OHCA patients were included in the study. 105 (64.0%) were pronounced dead in the Emergency Department. 59 (36.0%) were admitted to ICU for cooling; 40 (24.4%) died in ICU and 19 (11.6%) survived to hospital discharge. Patients who achieved ROSC and had esophageal temperature measured pre-hospital ( n = 29) had a mean pre-hospital temperature of 33.9 °C (95% CI 33.2–34.5). All patients arriving in the ED post OHCA had a relatively low esophageal temperature (34.3 °C, 95% CI 34.1–34.6). Patients surviving to hospital discharge were warmer on admission to ICU than patients who died in hospital (35.7 °C vs 34.3 °C, p < 0.05). Patients surviving to hospital discharge also took longer to reach Ttarg than non-survivors (2 h 48 min vs 1 h 32 min, p < 0.05). Conclusions Following OHCA all patients have esophageal temperatures below normal in the pre-hospital phase and on arrival in the Emergency Department. Patients who achieve ROSC following OHCA and survive to hospital discharge are warmer on arrival in ICU and take longer to reach target MTH temperatures compared to patients who die in hospital. The mechanisms of action underlying esophageal temperature and survival from OHCA remain unclear and further research is warranted to clarify this relationship.
Consistent continuous glucose monitor (CGM) use is associated with substantial improvements in glycemic control, yet the uptake and continued use of these technologies remains low. This systematic ...review aims to identify and summarize the state of science on human factors and their association with CGM use to inform training methods and best practices that support adherence to CGM use and automated insulin delivery systems. A literature search was conducted in PubMed, CINAHL, The Cochrane Library, and PsychInfo databases using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines to identify studies that reported psychological human factors related to CGM or sensor-augmented pump use in patients with type 1 diabetes. In total, 389 records were identified through our database search and 26 studies published between 2010 and 2017 were included. Articles underwent quality appraisal using the
and were categorized according to study outcomes. Identified human factors with a potential association with CGM use were treatment satisfaction, quality of life, emotional distress, and self-efficacy. Eight patient-reported barriers to CGM use were identified as a subcomponent of satisfaction. To date, studies of human factors associated with CGM use generally lack standardized measures and sufficient methodological rigor necessary to establish causation. A more robust understanding of how identified human factors influence CGM use is necessary. Future studies should test interventions that target human factors to improve consistency of use and establish best practices for enhancing patients' experience and acceptance of these technologies, especially within adolescents and young adults.
Abstract Background Out-of-hospital cardiac arrest (OHCA) is a leading cause of pre-hospital mortality. Chest compressions performed during cardiopulmonary resuscitation aim to provide adequate ...perfusion to the vital organs during cardiac arrest. Poor resuscitation technique and the quality of pre-hospital CPR influences outcome from OHCA. Transthoracic impedance (TTI) measurement is a useful tool in the assessment of the quality of pre-hospital resuscitation by ambulance crews but TTI telemetry has not yet been performed in the United Kingdom. We describe a pilot study to implement a data network to collect defibrillator TTI data via telemetry from ambulances. Methods Prospective, observational pilot study over a 5-month period. Modems were fitted to 40 defibrillators on ambulances based in Edinburgh. TTI data was sent to a receiving computer after resuscitation attempts for OHCA. Results 58 TTI traces were transmitted during the pilot period. Compliance with the telemetry system was high. The mean ratio of chest compressions was 73% (95% CI 69–77%), the mean chest compression rate was 128 (95% CI 122–134). The mean time interval from chest compression interruption to shock delivery was 27 s (95% CI 22–32 s). Conclusion Trans-thoracic impedance analysis is an effective means of recording important measures of resuscitation quality including the hands-on-the-chest time, compression rate and defibrillation interval time. TTI data transmission via telemetry is straightforward, efficient and allows resuscitation data to be captured and analysed from a large geographical area. Further research is warranted on the impact of post-resuscitation reporting on the quality of resuscitation delivered by ambulance crews.
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